MLH3 (DNA mismatch repair protein Mlh3) variants and mutations
MLH3 (also known as DNA mismatch repair protein Mlh3) is a human protein-coding gene encoding a DNA mismatch repair protein. It partners with other mismatch-repair proteins and also participates in meiotic crossover formation. Biallelic or monoallelic variants have been investigated in cancer predisposition, but the clinical significance of many MLH3 variants remains less firmly established than for core Lynch-syndrome genes. This analysis covers 3,148 MLH3 variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes colorectal cancer, Lynch syndrome, and endometrial carcinoma. Example MLH3 variants include M1I, M1V, and I2M.
Variant analysis overview
- Gene: MLH3
- Protein: DNA mismatch repair protein Mlh3
- UniProt accession: Q9UHC1
- Organism: Homo sapiens
- Variants analyzed: 3148
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 2,970 unspecified-consequence records; 1 stop lost; 68 synonymous variants; 22 frameshift variants; 64 missense variants; 6 stop-gained variants; 5 in-frame deletions; 5 splice-region variants; 1 protein altering variant; 8 substitution
- Prediction scores: 2,122 variants have prediction scores (67% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: colorectal cancer, Lynch syndrome, endometrial carcinoma, ovarian cancer, endometrial cancer, colon carcinoma, primary ovarian failure, Abnormality of the skeletal system, coronary artery disorder, skin disorder, Furuncle, carbuncle.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable MLH3 variants
Examples include M1I, M1V, I2M, I2V, K3R, C4G, C4R, L5V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1228816377, ClinGen CA390452875, ClinVar RCV001206491, MetaLR 0.88, MetaSVM 0.91, Uncertain significance
- M1V (p.Met1Val), rs1892535492, ClinGen CA390452887, ClinVar RCV002796295, MetaLR 0.87, MetaSVM 0.93, Uncertain significance
- I2M (p.Ile2Met), rs776416749, ClinGen CA7276102, ClinVar RCV001058280, ClinVar RCV003321792, REVEL 0.86, CADD 23.20, Uncertain significance
- I2V (p.Ile2Val), rs2503339854, ClinGen CA390452867, ClinVar RCV004050872, REVEL 0.75, CADD 24.00, Uncertain significance
- K3R (p.Lys3Arg), rs114829239, ClinGen CA7276101, cosmic curated COSV10458, ClinVar RCV000290922, REVEL 0.22, CADD 20.60, Benign
- C4G (p.Cys4Gly), rs2503339754, ClinGen CA390452827, ClinVar RCV004331407, Uncertain significance
- C4R (p.Cys4Arg), rs2503339754, ClinGen CA390452830, ClinVar RCV004521104, ClinVar RCV006564927, Uncertain significance
- L5V (p.Leu5Val), cosmic curated COSV53136, TOPMed rs1205519340, Uncertain significance
- S6P (p.Ser6Pro), cosmic curated COSV10804, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V7A (p.Val7Ala), rs1249743272, ClinGen CA390452774, ClinVar RCV004243261, TOPMed rs1249743272, REVEL 0.35, CADD 7.28, Uncertain significance
- V7D (p.Val7Asp), rs1249743272, ClinGen CA390452776, ClinVar RCV004060321, REVEL 0.38, CADD 8.14, Uncertain significance
- V7I (p.Val7Ile), Ensembl rs2139615266
- E8* (p.Glu8Ter), cosmic curated COSV53135, Ensembl rs2139615209
- E8Q (p.Glu8Gln), rs2139615209, ClinGen CA390452766, ClinVar RCV004062615, Uncertain significance
- Q10* (p.Gln10Ter), Ensembl rs2139615137
- Q10H (p.Gln10His), rs1892533111, ClinGen CA390451950, ClinVar RCV004048328, Ensembl rs1892533111, AlphaMissense 0.61, MetaLR 0.71, Uncertain significance
- Q10R (p.Gln10Arg), rs2503339427, ClinGen CA390452731, ClinVar RCV004065477, Uncertain significance
- A11T (p.Ala11Thr), rs2139615082, ClinGen CA390451945, ClinVar RCV001888471, ClinVar RCV004041097, AlphaMissense 0.12, MetaLR 0.47, Uncertain significance, not specified; Colorectal cancer, hereditary nonpolyposis, type 7
- A11V (p.Ala11Val), rs1207858644, ClinGen CA390451928, ClinVar RCV004049496, TOPMed rs1207858644, REVEL 0.37, CADD 22.20, Uncertain significance, not specified
- K12E (p.Lys12Glu), rs1892532750, ClinGen CA390451920, ClinVar RCV001337238, Ensembl rs1892532750, AlphaMissense 0.22, MetaLR 0.71, Uncertain significance
- R14C (p.Arg14Cys), rs1892532093, ClinGen CA390451877, cosmic curated COSV53135, ClinVar RCV004051328, REVEL 0.84, CADD 29.40, Uncertain significance
- R14H (p.Arg14His), rs760072474, ClinGen CA7276100, NCI-TCGA Cosmic COSV5313, cosmic curated COSV53134, REVEL 0.91, AlphaMissense 0.30, Uncertain significance
- R14P (p.Arg14Pro), rs760072474, ClinGen CA390451874, ClinVar RCV004051875, AlphaMissense 0.30, MetaLR 0.87, Uncertain significance
- S15F (p.Ser15Phe), rs1424606217, ClinGen CA390451859, ClinVar RCV004243253, TOPMed rs1424606217, AlphaMissense 0.64, MetaLR 0.90, Uncertain significance
- G16D (p.Gly16Asp), rs2139614769, ClinGen CA390451853, ClinVar RCV003322551, AlphaMissense 0.67, MetaLR 0.90, Uncertain significance
- G16V (p.Gly16Val), rs2139614769, ClinGen CA390451855, ClinVar RCV004281542, Ensembl rs2139614769, REVEL 0.93, AlphaMissense 0.67, Uncertain significance
- L17V (p.Leu17Val), rs773049883, ClinGen CA7276099, ClinVar RCV004521251, ClinVar RCV005100767, REVEL 0.21, CADD 9.73, Uncertain significance
- A18G (p.Ala18Gly), Ensembl rs2139614635
- A18S (p.Ala18Ser), rs2139614677, ClinGen CA390451844, ClinVar RCV004331434, Ensembl rs2139614677, AlphaMissense 0.12, MetaLR 0.57, Uncertain significance
- A18T (p.Ala18Thr), Ensembl rs2139614677, Uncertain significance
- A18V (p.Ala18Val), Ensembl rs2139614635
- I19M (p.Ile19Met), rs2503338803, ClinGen CA390451834, ClinVar RCV004054108, Uncertain significance
- S20G (p.Ser20Gly), rs2503338746, ClinGen CA390451830, ClinVar RCV004054239, Uncertain significance
- S20N (p.Ser20Asn), rs1269145505, ClinGen CA390451825, ClinVar RCV001204280, ClinVar RCV004033609, REVEL 0.01, CADD 3.51, Uncertain significance
- S21A (p.Ser21Ala), NCI-TCGA Cosmic COSV9946, cosmic curated COSV99464, Variant assessed as somatic; moderate impact.
- S21C (p.Ser21Cys), ExAC rs771802126, gnomAD rs771802126, Uncertain significance
- S21F (p.Ser21Phe), ExAC rs771802126, gnomAD rs771802126, REVEL 0.59, CADD 27.90, Uncertain significance
- S21P (p.Ser21Pro), rs1233254643, ClinGen CA390451803, ClinVar RCV001205058, ClinVar RCV004033637, REVEL 0.57, CADD 27.20, Uncertain significance
- S21Y (p.Ser21Tyr), rs771802126, ClinGen CA390451795, ClinVar RCV004521262, REVEL 0.60, CADD 26.70, Uncertain significance
- L22S (p.Leu22Ser), rs1299756121, ClinGen CA390451786, ClinVar RCV004054450, TOPMed rs1299756121, REVEL 0.71, CADD 27.00, Uncertain significance
- G23C (p.Gly23Cys), Ensembl rs2139614429
- Q24* (p.Gln24Ter), rs28937870, ClinGen CA390451759, ClinVar RCV004055256, AlphaMissense 0.14, MetaLR 0.37, Uncertain significance, in HNPCC7
- Q24E (p.Gln24Glu), rs28937870, ClinGen CA117588, ClinVar RCV000005897, ClinVar RCV004018569, REVEL 0.45, AlphaMissense 0.14, Pathogenic, in HNPCC7
- Q24H (p.Gln24His), rs1371598567, ClinGen CA390451747, ClinVar RCV004599323, TOPMed rs1371598567, AlphaMissense 0.43, MetaLR 0.17, Likely benign, in HNPCC7
- Q24L (p.Gln24Leu), rs2139614337, ClinGen CA390451755, ClinVar RCV004055746, AlphaMissense 0.26, MetaLR 0.33, Uncertain significance, in HNPCC7
- Q24R (p.Gln24Arg), rs2139614337, ClinGen CA390451751, ClinVar RCV002023062, ClinVar RCV004641888, REVEL 0.47, AlphaMissense 0.26, Uncertain significance, in HNPCC7
- C25* (p.Cys25Ter), gnomAD rs1310211715, CADD 34.00
- C25Y (p.Cys25Tyr), Ensembl rs2139614269
- V26D (p.Val26Asp), Ensembl rs2139614169
- V26F (p.Val26Phe), rs964651295, ClinGen CA263654175, ClinVar RCV001341838, ClinVar RCV004035974, REVEL 0.76, CADD 24.30, Uncertain significance
- V26I (p.Val26Ile), TOPMed rs964651295, REVEL 0.26, CADD 19.50, Uncertain significance
- E27* (p.Glu27Ter), Ensembl rs2139614131
- E27D (p.Glu27Asp), Ensembl rs2139614067
- E27K (p.Glu27Lys), rs2139614131, ClinGen CA390451714, ClinVar RCV004055365, Uncertain significance
- E27V (p.Glu27Val), Ensembl rs2139614107
- E28* (p.Glu28Ter), rs780501758, ClinGen CA7276097, ClinVar RCV001922153, ClinVar RCV004041257, CADD 36.00, Uncertain significance
- E28V (p.Glu28Val), rs2503337988, ClinGen CA390451693, ClinVar RCV004521273, Uncertain significance
- E28X, rs780501758, []
- L29V (p.Leu29Val), rs2503337915, ClinGen CA390451682, ClinVar RCV004056544, Uncertain significance
- A30S (p.Ala30Ser), gnomAD rs1173241120
- A30T (p.Ala30Thr), gnomAD rs1173241120, REVEL 0.27, CADD 17.20
- A30V (p.Ala30Val), rs1401152871, ClinGen CA390451661, ClinVar RCV004054914, TOPMed rs1401152871, REVEL 0.24, CADD 14.00, Uncertain significance
- L31F (p.Leu31Phe), rs2139613860, ClinGen CA390451655, ClinVar RCV004521276, Ensembl rs2139613860, AlphaMissense 0.12, MetaLR 0.65, Uncertain significance
- L31P (p.Leu31Pro), TOPMed rs1892527143
- L31V (p.Leu31Val), rs2139613860, ClinGen CA390451657, ClinVar RCV004055074, AlphaMissense 0.12, MetaLR 0.65, Uncertain significance
- N32S (p.Asn32Ser), rs2503337551, ClinGen CA390451627, ClinVar RCV004056947, Uncertain significance
- S33G (p.Ser33Gly), rs770219274, ClinGen CA7276096, ClinVar RCV002025108, ExAC rs770219274, REVEL 0.92, CADD 26.80, Uncertain significance
- S33N (p.Ser33Asn), rs2139613635, ClinGen CA390451612, ClinVar RCV002045866, ClinVar RCV004046770, AlphaMissense 0.94, MetaLR 0.92, Uncertain significance
- S33R (p.Ser33Arg), gnomAD rs1197141918, REVEL 0.88, CADD 24.30
- I34T (p.Ile34Thr), TOPMed rs1008661571, REVEL 0.59, CADD 26.50
- D35N (p.Asp35Asn), Ensembl rs2139613536
- D35Y (p.Asp35Tyr), Ensembl rs2139613536
- A36D (p.Ala36Asp), NCI-TCGA Cosmic COSV9946, cosmic curated COSV99464, Variant assessed as somatic; moderate impact.
- A36G (p.Ala36Gly), Ensembl rs2139613424
- A36T (p.Ala36Thr), Ensembl rs2139613476
- A36V (p.Ala36Val), Ensembl rs2139613424
- E37G (p.Glu37Gly), rs2503337127, ClinGen CA390451561, ClinVar RCV003102102, ClinVar RCV004063618, Uncertain significance
- A38E (p.Ala38Glu), rs2503337048, ClinGen CA390451554, ClinVar RCV004366355, REVEL 0.91, CADD 27.20, Uncertain significance
- A38S (p.Ala38Ser), Ensembl rs2139613353
- A38T (p.Ala38Thr), Ensembl rs2139613353
- K39R (p.Lys39Arg), rs2503336939, ClinGen CA390451547, ClinVar RCV004049840, REVEL 0.37, CADD 23.80, Uncertain significance
- C40F (p.Cys40Phe), ExAC rs746448677, gnomAD rs746448677, Uncertain significance
- C40R (p.Cys40Arg), TOPMed rs1892525593, gnomAD rs1892525593, REVEL 0.55, CADD 28.30
- C40Y (p.Cys40Tyr), rs746448677, ClinGen CA7276095, ClinVar RCV000472084, ClinVar RCV004022853, REVEL 0.58, CADD 26.00, Uncertain significance
- V41M (p.Val41Met), rs770297216, ClinGen CA7276094, ClinVar RCV001929389, ClinVar RCV003416618, REVEL 0.80, CADD 25.00, Uncertain significance
- A42G (p.Ala42Gly), Ensembl rs2139613137
- A42P (p.Ala42Pro), rs748676497, ClinGen CA390451531, ClinVar RCV004054637, AlphaMissense 0.28, MetaLR 0.26, Uncertain significance
- A42S (p.Ala42Ser), ExAC rs748676497, TOPMed rs748676497, gnomAD rs748676497, Uncertain significance
- A42T (p.Ala42Thr), rs748676497, ClinGen CA7276093, ClinVar RCV001119976, ClinVar RCV004020769, REVEL 0.32, AlphaMissense 0.28, Uncertain significance
- V43D (p.Val43Asp), gnomAD rs1346456329, REVEL 0.94, CADD 27.10
- V43G (p.Val43Gly), gnomAD rs1346456329
- V43I (p.Val43Ile), rs554073121, ClinGen CA7276091, ClinVar RCV001224621, ExAC rs554073121, REVEL 0.24, CADD 15.30, Uncertain significance
- V43L (p.Val43Leu), rs554073121, ClinGen CA7276090, ClinVar RCV004056974, ExAC rs554073121, REVEL 0.62, CADD 23.30, Uncertain significance
- R44G (p.Arg44Gly), NCI-TCGA Cosmic COSV5313, cosmic curated COSV53135, Variant assessed as somatic; moderate impact.
- R44M (p.Arg44Met), Ensembl rs2139612937
- R44S (p.Arg44Ser), rs752498783, ClinGen CA7276089, ClinVar RCV003338082, ExAC rs752498783, AlphaMissense 0.88, MetaLR 0.21, Likely benign
- R44T (p.Arg44Thr), rs2139612937, ClinGen CA390451519, ClinVar RCV004058363, AlphaMissense 0.71, MetaLR 0.40, Uncertain significance
- V45E (p.Val45Glu), gnomAD rs1223489475
- V45G (p.Val45Gly), gnomAD rs1223489475
- V45M (p.Val45Met), Ensembl rs2139612846, REVEL 0.33, CADD 24.20
- N46H (p.Asn46His), ExAC rs765136707, gnomAD rs765136707, REVEL 0.22, CADD 23.80
- N46T (p.Asn46Thr), rs2503336103, ClinGen CA390451508, ClinVar RCV004058931, Uncertain significance
- M47I (p.Met47Ile), rs2139612633, ClinGen CA390451496, ClinVar RCV003774321, ClinVar RCV004057232, REVEL 0.13, CADD 21.50, Uncertain significance
- M47T (p.Met47Thr), gnomAD rs1290668915, REVEL 0.22, CADD 25.50
- M47V (p.Met47Val), rs1892522866, ClinGen CA390451502, ClinVar RCV004283405, TOPMed rs1892522866, REVEL 0.10, CADD 14.50, Uncertain significance
- E48K (p.Glu48Lys), rs2503335964, ClinGen CA390451494, ClinVar RCV004057794, ClinVar RCV005058619, Uncertain significance
- T49I (p.Thr49Ile), rs2139612601, ClinGen CA390451481, ClinVar RCV004366199, AlphaMissense 0.14, MetaLR 0.65, Uncertain significance
- T49S (p.Thr49Ser), Ensembl rs2139612601
- F50C (p.Phe50Cys), ESP rs148409389, ExAC rs148409389, TOPMed rs148409389, gnomAD rs148409389, REVEL 0.30, CADD 22.80, Likely benign
- F50L (p.Phe50Leu), rs1892522031, NCI-TCGA Cosmic COSV9946, cosmic curated COSV99465, gnomAD rs1892522031, REVEL 0.19, CADD 22.50, Uncertain significance
- F50V (p.Phe50Val), rs2503335831, ClinGen CA390451478, ClinVar RCV004058493, Uncertain significance
- F50Y (p.Phe50Tyr), rs148409389, ClinGen CA7276086, ClinVar RCV000382973, ClinVar RCV000415369, REVEL 0.07, CADD 23.10, Likely benign
- Q51* (p.Gln51Ter), gnomAD rs1335415965, CADD 36.00
- Q51E (p.Gln51Glu), gnomAD rs1335415965
- V52A (p.Val52Ala), rs903733621, ClinGen CA263654119, ClinVar RCV004059119, TOPMed rs903733621, REVEL 0.85, CADD 26.30, Uncertain significance
- V52I (p.Val52Ile), rs2139612359, ClinGen CA390451465, ClinVar RCV003320327, Ensembl rs2139612359, AlphaMissense 0.09, MetaLR 0.26, Uncertain significance
- V52S (p.Val52Ser), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- Q53L (p.Gln53Leu), gnomAD rs1335050213
- Q53P (p.Gln53Pro), gnomAD rs1335050213, REVEL 0.75, CADD 26.50
- Q53R (p.Gln53Arg), gnomAD rs1335050213
- V54L (p.Val54Leu), rs2503335497, ClinGen CA390451452, ClinVar RCV004366376, REVEL 0.90, CADD 24.90, Uncertain significance
- I55K (p.Ile55Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D56G (p.Asp56Gly), rs772808535, ClinGen CA7276083, ClinVar RCV003100787, ClinVar RCV004059868, REVEL 0.98, CADD 28.20, Uncertain significance
- D56N (p.Asp56Asn), rs760255710, ClinGen CA7276084, ClinVar RCV004283396, ExAC rs760255710, AlphaMissense 0.86, MetaLR 0.99, Uncertain significance
- N57D (p.Asn57Asp), rs2503335398, ClinGen CA390451433, ClinVar RCV004243290, Uncertain significance
- N57K (p.Asn57Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N57S (p.Asn57Ser), rs376748258, ClinGen CA263654093, ClinVar RCV003774469, ClinVar RCV004060561, REVEL 0.87, AlphaMissense 0.20, Uncertain significance
- N57T (p.Asn57Thr), rs376748258, ClinGen CA390451431, ClinVar RCV004244661, AlphaMissense 0.20, MetaLR 0.91, Uncertain significance
- G58E (p.Gly58Glu), Ensembl rs2139612001
- G58V (p.Gly58Val), Ensembl rs2139612001
- F59V (p.Phe59Val), Ensembl rs2139611967
- G60R (p.Gly60Arg), rs1412532548, ClinGen CA390451412, ClinVar RCV002805489, TOPMed rs1412532548, AlphaMissense 0.96, MetaLR 1.00, Uncertain significance
- G60W (p.Gly60Trp), rs1412532548, ClinGen CA390451411, cosmic curated COSV10586, ClinVar RCV004521135, REVEL 0.97, AlphaMissense 0.96, Uncertain significance
- M61I (p.Met61Ile), rs2139611827, ClinGen CA390451401, ClinVar RCV004521138, ClinVar RCV005100764, REVEL 0.25, CADD 17.60, Uncertain significance
- M61L (p.Met61Leu), rs2503335168, ClinGen CA390451405, ClinVar RCV004059370, REVEL 0.50, CADD 20.90, Uncertain significance
- M61T (p.Met61Thr), rs2503335129, ClinGen CA390451404, ClinVar RCV004059416, Uncertain significance
- G62E (p.Gly62Glu), cosmic curated COSV10605, Ensembl rs2139611727
- G62R (p.Gly62Arg), rs761501352, ClinGen CA7276081, ClinVar RCV000559273, ClinVar RCV003935562, REVEL 0.36, CADD 23.20, Likely benign
- G62V (p.Gly62Val), Ensembl rs2139611727
- G62W (p.Gly62Trp), cosmic curated COSV10458, ExAC rs761501352, TOPMed rs761501352, gnomAD rs761501352, Likely benign
- S63N (p.Ser63Asn), Ensembl rs2139611692
- S63R (p.Ser63Arg), gnomAD rs1443431758, REVEL 0.05, CADD 2.17
- D64N (p.Asp64Asn), cosmic curated COSV10499, Ensembl rs2139611592
- D65E (p.Asp65Glu), rs746192170, ClinGen CA7276078, ClinVar RCV004521142, ExAC rs746192170, REVEL 0.64, CADD 21.00, Likely benign
- D65H (p.Asp65His), rs774137288, ClinGen CA7276080, ClinVar RCV003100948, ClinVar RCV004060951, REVEL 0.74, CADD 25.20, Uncertain significance
- V66A (p.Val66Ala), rs1406012470, ClinGen CA390451367, ClinVar RCV004061636, TOPMed rs1406012470, REVEL 0.43, CADD 23.30, Uncertain significance
- V66I (p.Val66Ile), rs2139611483, ClinGen CA390451371, ClinVar RCV002045164, ClinVar RCV004046040, AlphaMissense 0.07, MetaLR 0.36, Uncertain significance
- E67D (p.Glu67Asp), cosmic curated COSV53135, ExAC rs771298368, gnomAD rs771298368, REVEL 0.06, CADD 7.71
- E67K (p.Glu67Lys), rs781749227, ClinGen CA7276077, ClinVar RCV004061719, ExAC rs781749227, REVEL 0.15, CADD 19.70, Uncertain significance
- K68E (p.Lys68Glu), rs375069317, ClinGen CA7276075, ClinVar RCV004281545, ESP rs375069317, REVEL 0.25, CADD 24.90, Uncertain significance
- V69A (p.Val69Ala), rs886050779, ClinGen CA10644939, ClinVar RCV000325990, ClinVar RCV004824053, REVEL 0.19, CADD 22.70, Uncertain significance
- V69E (p.Val69Glu), TOPMed rs886050779, gnomAD rs886050779, Uncertain significance
- V69L (p.Val69Leu), rs2139611261, ClinGen CA390451352, ClinVar RCV004059679, NCI-TCGA TCGA novel, AlphaMissense 0.46, MetaLR 0.09, Uncertain significance
- G70E (p.Gly70Glu), rs2503334417, ClinGen CA390451344, ClinVar RCV004060317, Uncertain significance
- G70R (p.Gly70Arg), Ensembl rs1892516661
- R72C (p.Arg72Cys), rs370545907, ClinGen CA7276073, cosmic curated COSV53134, ClinVar RCV004061027, REVEL 0.46, CADD 28.50, Uncertain significance
- R72G (p.Arg72Gly), rs370545907, ClinGen CA390451332, ClinVar RCV003101086, ClinVar RCV004599382, REVEL 0.43, CADD 26.20, Uncertain significance
- R72H (p.Arg72His), rs748434126, ClinGen CA7276072, cosmic curated COSV53134, ClinVar RCV003101096, REVEL 0.37, CADD 26.20, Uncertain significance
- R72L (p.Arg72Leu), rs748434126, ClinGen CA390451330, ClinVar RCV004061064, ExAC rs748434126, REVEL 0.41, CADD 26.10, Uncertain significance
- Y73C (p.Tyr73Cys), gnomAD rs1350361020, REVEL 0.93, CADD 28.60
- T75A (p.Thr75Ala), Ensembl rs1892515367
- T75S (p.Thr75Ser), Ensembl rs1892515152
- S76G (p.Ser76Gly), gnomAD rs1892514728, REVEL 0.86, CADD 23.30
- S76N (p.Ser76Asn), gnomAD rs1450527073, REVEL 0.86, CADD 25.20
- K77* (p.Lys77Ter), NCI-TCGA Cosmic COSV5313, cosmic curated COSV53135, Variant assessed as somatic; high impact.
- H79D (p.His79Asp), rs754850331, ClinGen CA390451282, ClinVar RCV004331399, REVEL 0.25, CADD 9.19, Uncertain significance
- H79L (p.His79Leu), rs753528013, ClinGen CA390451280, ClinVar RCV001895447, ClinVar RCV005601819, REVEL 0.32, CADD 6.80, Uncertain significance
- H79Q (p.His79Gln), rs1892513422, ClinGen CA390451278, ClinVar RCV004063351, TOPMed rs1892513422, REVEL 0.22, CADD 23.00, Uncertain significance
- H79R (p.His79Arg), rs753528013, ClinGen CA7276069, ClinVar RCV000796376, ClinVar RCV004027563, REVEL 0.27, CADD 4.04, Uncertain significance
- H79Y (p.His79Tyr), ExAC rs754850331, gnomAD rs754850331, REVEL 0.20, CADD 8.25
- S80* (p.Ser80Ter), cosmic curated COSV99465, TOPMed rs1566610687, CADD 36.00, Uncertain significance
- S80L (p.Ser80Leu), rs1566610687, ClinGen CA390451272, cosmic curated COSV53135, ClinVar RCV003505278, REVEL 0.56, CADD 25.70, Uncertain significance
- S80W (p.Ser80Trp), TOPMed rs1566610687, Uncertain significance
- V81A (p.Val81Ala), rs907606500, ClinGen CA263654001, ClinVar RCV003615265, Ensembl rs907606500, REVEL 0.26, AlphaMissense 0.20, Uncertain significance
- V81E (p.Val81Glu), rs907606500, ClinGen CA390451268, ClinVar RCV004521161, AlphaMissense 0.20, MetaLR 0.55, Uncertain significance
- V81I (p.Val81Ile), Ensembl rs2139610437
- V81L (p.Val81Leu), rs2139610437, ClinGen CA390451270, ClinVar RCV004063479, AlphaMissense 0.07, MetaLR 0.41, Uncertain significance
- Q82* (p.Gln82Ter), rs372763743, ClinGen CA263653996, ClinVar RCV001303540, ClinVar RCV005005146, CADD 35.00, Uncertain significance
- Q82H (p.Gln82His), rs1407041352, TOPMed rs1407041352, gnomAD rs1407041352, ClinGen CA390451260, REVEL 0.43, CADD 21.90, Likely benign
- Q82R (p.Gln82Arg), rs1398843008, ClinGen CA390451263, ClinVar RCV004326191, TOPMed rs1398843008, REVEL 0.25, CADD 19.20, Uncertain significance
Public MLH3 analysis runs
- MLH3 analysis run — MLH3 (3,148 variants) — completed 2026-08-22