SHTN1 (Shootin-1) variants and mutations
SHTN1 (also known as Shootin-1) is a human protein-coding gene encoding a shootin-1 protein. SHTN1 helps establish neuronal polarity and drive neurite and axon outgrowth. At the growth cone it couples actin movement to the substrate and coordinates signaling needed for neuronal migration and regeneration. This analysis covers 776 SHTN1 variants and mutations. Of these, 99% have computational variant effect predictions. Example SHTN1 variants include S3N, S4*, and S4A.
Variant analysis overview
- Gene: SHTN1
- Protein: Shootin-1
- UniProt accession: A0MZ66
- Organism: Homo sapiens
- Variants analyzed: 776
- Variant scope: all variants
- Completed: 2026-05-31
Variant and mutation evidence
- Variant composition: 566 unspecified-consequence records; 1 stop retained variant; 112 missense variants; 67 synonymous variants; 4 in-frame deletions; 17 frameshift variants; 1 in-frame insertions; 2 stop lost; 4 stop-gained variants; 1 splice-region variants; 1 substitution
- Prediction scores: 765 variants have prediction scores (99% of the analyzed set).
Protein structure and variant hotspots
- Protein features: 15 post-translational modification sites.
- PTM context: 29 variants overlap post-translational modification sites.
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, PharmGKB, MaveDB, LitVar.
Notable SHTN1 variants
Examples include S3N, S4*, S4A, S4L, S4W, D5E, D5G, E6K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- S3N (p.Ser3Asn), Ensembl rs2133548699, REVEL 0.26, ESM-1b 0.00
- S4* (p.Ser4Ter), TOPMed rs1416385575, gnomAD rs1416385575, CADD 37.00
- S4A (p.Ser4Ala), rs769962385, ClinGen CA5709579, ClinVar RCV004360706, ExAC rs769962385, REVEL 0.28, ESM-1b 0.00, Uncertain significance, not specified
- S4L (p.Ser4Leu), TOPMed rs1416385575, gnomAD rs1416385575, REVEL 0.36, ESM-1b 0.00
- S4W (p.Ser4Trp), TOPMed rs1416385575, gnomAD rs1416385575, REVEL 0.45, ESM-1b 0.54
- D5E (p.Asp5Glu), TOPMed rs1851965970, REVEL 0.29, ESM-1b 0.00
- D5G (p.Asp5Gly), TOPMed rs1240512991, gnomAD rs1240512991, REVEL 0.35, ESM-1b 0.00
- E6K (p.Glu6Lys), TOPMed rs1303864887, gnomAD rs1303864887, REVEL 0.33, ESM-1b 0.00
- K8N (p.Lys8Asn), ExAC rs757147203, TOPMed rs757147203, gnomAD rs757147203, REVEL 0.25, ESM-1b 0.00
- K8R (p.Lys8Arg), ExAC rs746080176, TOPMed rs746080176, gnomAD rs746080176, REVEL 0.23, ESM-1b 0.00
- K8T (p.Lys8Thr), ExAC rs746080176, TOPMed rs746080176, gnomAD rs746080176, REVEL 0.29, ESM-1b 0.00
- Q9R (p.Gln9Arg), gnomAD rs1429782251, REVEL 0.28, ESM-1b 0.00
- T14I (p.Thr14Ile), ExAC rs747181032, TOPMed rs747181032, gnomAD rs747181032, REVEL 0.21, ESM-1b 0.00
- T14S (p.Thr14Ser), ExAC rs747181032, TOPMed rs747181032, gnomAD rs747181032, REVEL 0.22, ESM-1b 0.00
- S15N (p.Ser15Asn), TOPMed rs1851964600, gnomAD rs1851964600, REVEL 0.05, ESM-1b 0.00
- S15T (p.Ser15Thr), TOPMed rs1851964600, gnomAD rs1851964600, REVEL 0.05, ESM-1b 0.00
- K17Q (p.Lys17Gln), TOPMed rs1851964309, REVEL 0.18, ESM-1b 0.00
- E18K (p.Glu18Lys), cosmic curated COSV10502, ExAC rs778394525, TOPMed rs778394525, gnomAD rs778394525, REVEL 0.11, ESM-1b 0.00
- E18V (p.Glu18Val), gnomAD rs1414235601, REVEL 0.04, ESM-1b 0.00
- Q19* (p.Gln19Ter), gnomAD rs1026143235, CADD 38.00
- A20T (p.Ala20Thr), TOPMed rs1402661565, gnomAD rs1402661565, REVEL 0.42, ESM-1b 0.00
- I21L (p.Ile21Leu), ExAC rs779365654, TOPMed rs779365654, gnomAD rs779365654, ESM-1b 0.00, AlphaMissense 0.29
- I21T (p.Ile21Thr), TOPMed rs1024521250, gnomAD rs1024521250, REVEL 0.45, ESM-1b 0.00
- I21V (p.Ile21Val), cosmic curated COSV10502, ExAC rs779365654, TOPMed rs779365654, gnomAD rs779365654, REVEL 0.35, ESM-1b 0.00
- G22C (p.Gly22Cys), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.47, Variant assessed as somatic; moderate impact.
- G22D (p.Gly22Asp), ExAC rs755289740, gnomAD rs755289740, REVEL 0.41, ESM-1b 0.00
- E23G (p.Glu23Gly), TOPMed rs1342292528, REVEL 0.32, ESM-1b 1.00
- E23K (p.Glu23Lys), rs765922322, ExAC rs765922322, TOPMed rs765922322, gnomAD rs765922322, REVEL 0.39, ESM-1b 0.23, Uncertain significance, not specified
- D26G (p.Asp26Gly), 1000Genomes rs536588157, ExAC rs536588157, gnomAD rs536588157, REVEL 0.43, ESM-1b 0.00
- A29V (p.Ala29Val), cosmic curated COSV53380, TOPMed rs1245818922, gnomAD rs1245818922, REVEL 0.29, ESM-1b 0.00
- Q32* (p.Gln32Ter), NCI-TCGA Cosmic COSV9959, cosmic curated COSV99599, Variant assessed as somatic; high impact.
- Q32H (p.Gln32His), ExAC rs761679868, TOPMed rs761679868, gnomAD rs761679868, REVEL 0.34, ESM-1b 0.00
- K33E (p.Lys33Glu), gnomAD rs1272920446, REVEL 0.42, ESM-1b 0.00
- T34R (p.Thr34Arg), ExAC rs774259616, TOPMed rs774259616, gnomAD rs774259616, REVEL 0.45, ESM-1b 1.00
- C38=, NCI-TCGA Cosmic COSV5338, Variant assessed as somatic; low impact.
- C38Y (p.Cys38Tyr), TOPMed rs994232475, gnomAD rs994232475, REVEL 0.37, ESM-1b 0.00
- D39E (p.Asp39Glu), Ensembl rs77815804, ESM-1b 0.00, AlphaMissense 0.13
- D39N (p.Asp39Asn), TOPMed rs1315034361, gnomAD rs1315034361, REVEL 0.13, ESM-1b 0.35, Uncertain significance, not specified
- E44* (p.Glu44Ter), TOPMed rs1266359126, gnomAD rs1266359126, CADD 39.00
- E44K (p.Glu44Lys), NCI-TCGA Cosmic COSV5338, cosmic curated COSV53388, ESM-1b 1.00, AlphaMissense 0.70, Variant assessed as somatic; moderate impact.
- E44Q (p.Glu44Gln), TOPMed rs1266359126, gnomAD rs1266359126, REVEL 0.38, ESM-1b 1.00
- R45Q (p.Arg45Gln), rs760926506, NCI-TCGA Cosmic COSV5337, cosmic curated COSV53379, ExAC rs760926506, REVEL 0.48, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- D46E (p.Asp46Glu), gnomAD rs1850488231, REVEL 0.20, ESM-1b 0.00
- D46H (p.Asp46His), TOPMed rs1850488346, gnomAD rs1850488346, REVEL 0.28, ESM-1b 1.00
- E47D (p.Glu47Asp), ESP rs372390565, ExAC rs372390565, TOPMed rs372390565, gnomAD rs372390565, REVEL 0.34, ESM-1b 0.00
- E47K (p.Glu47Lys), 1000Genomes rs561840863, ExAC rs561840863, gnomAD rs561840863, REVEL 0.44, ESM-1b 1.00
- A48V (p.Ala48Val), NCI-TCGA Cosmic COSV5338, cosmic curated COSV53387, REVEL 0.26, ESM-1b 0.26, Variant assessed as somatic; moderate impact.
- V49I (p.Val49Ile), rs905104409, NCI-TCGA Cosmic COSV5338, cosmic curated COSV53381, TOPMed rs905104409, REVEL 0.24, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- K50E (p.Lys50Glu), TOPMed rs1298520231, gnomAD rs1298520231, REVEL 0.37, ESM-1b 1.00
- K51N (p.Lys51Asn), TOPMed rs940430892, REVEL 0.44, ESM-1b 1.00
- K51R (p.Lys51Arg), Ensembl rs1390197955, ESM-1b 0.00, AlphaMissense 0.18
- E54* (p.Glu54Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- F55L (p.Phe55Leu), TOPMed rs1850487273, REVEL 0.45, ESM-1b 1.00
- Q56* (p.Gln56Ter), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- K57I (p.Lys57Ile), TOPMed rs1217047576, ESM-1b 1.00, AlphaMissense 0.73
- M61V (p.Met61Val), TOPMed rs893712308, ESM-1b 1.00, AlphaMissense 0.42
- V62I (p.Val62Ile), NCI-TCGA Cosmic COSV5338, cosmic curated COSV53381, ESM-1b 1.00, AlphaMissense 0.54, Variant assessed as somatic; moderate impact.
- I63M (p.Ile63Met), gnomAD rs1850137027, REVEL 0.60, ESM-1b 1.00
- E64G (p.Glu64Gly), gnomAD rs1850136721, REVEL 0.69, ESM-1b 1.00
- E64Q (p.Glu64Gln), gnomAD rs1850136862, REVEL 0.51, ESM-1b 1.00
- V66G (p.Val66Gly), gnomAD rs1850136297, REVEL 0.70, ESM-1b 1.00
- V66I (p.Val66Ile), ExAC rs759370475, gnomAD rs759370475, REVEL 0.42, ESM-1b 1.00
- V66L (p.Val66Leu), ExAC rs759370475, gnomAD rs759370475, REVEL 0.51, ESM-1b 1.00
- N67T (p.Asn67Thr), ExAC rs753730331, gnomAD rs753730331, REVEL 0.38, ESM-1b 0.23
- F68L (p.Phe68Leu), ExAC rs767797221, TOPMed rs767797221, gnomAD rs767797221, REVEL 0.33, ESM-1b 0.00
- H72R (p.His72Arg), ESP rs375325575, ExAC rs375325575, TOPMed rs375325575, gnomAD rs375325575, REVEL 0.38, ESM-1b 1.00
- H72Y (p.His72Tyr), Ensembl rs1850135603, ESM-1b 1.00, AlphaMissense 0.34
- E76K (p.Glu76Lys), gnomAD rs1268953899, ESM-1b 1.00, AlphaMissense 0.99
- K77R (p.Lys77Arg), gnomAD rs1850135235, REVEL 0.12, ESM-1b 1.00
- T78S (p.Thr78Ser), gnomAD rs1348548048, REVEL 0.33, ESM-1b 0.00
- R80* (p.Arg80Ter), gnomAD rs1437792504, CADD 36.00
- R80Q (p.Arg80Gln), rs1272172117, NCI-TCGA Cosmic COSV9959, TOPMed rs1272172117, gnomAD rs1272172117, REVEL 0.34, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- S82C (p.Ser82Cys), NCI-TCGA TCGA novel, REVEL 0.62, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- S82G (p.Ser82Gly), ESP rs371350473, ExAC rs371350473, TOPMed rs371350473, gnomAD rs371350473, REVEL 0.49, ESM-1b 1.00
- S82N (p.Ser82Asn), TOPMed rs1589844915, REVEL 0.40, ESM-1b 0.00
- A83T (p.Ala83Thr), NCI-TCGA Cosmic COSV5338, cosmic curated COSV53382, REVEL 0.63, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- A87T (p.Ala87Thr), rs776059035, NCI-TCGA Cosmic COSV5338, cosmic curated COSV53386, ExAC rs776059035, REVEL 0.61, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- T88I (p.Thr88Ile), TOPMed rs1405542055, gnomAD rs1405542055, REVEL 0.46, ESM-1b 0.66
- N91S (p.Asn91Ser), TOPMed rs1849892139, gnomAD rs1849892139, REVEL 0.35, ESM-1b 1.00
- K92E (p.Lys92Glu), ExAC rs747394357, gnomAD rs747394357, REVEL 0.56, ESM-1b 1.00
- T96K (p.Thr96Lys), 1000Genomes rs540474097, ExAC rs540474097, TOPMed rs540474097, gnomAD rs540474097, REVEL 0.17, ESM-1b 1.00, Uncertain significance, not specified
- T96M (p.Thr96Met), cosmic curated COSV53383, 1000Genomes rs540474097, ExAC rs540474097, TOPMed rs540474097, REVEL 0.14, ESM-1b 1.00
- I100V (p.Ile100Val), ESP rs143296440, ExAC rs143296440, TOPMed rs143296440, gnomAD rs143296440, REVEL 0.38, ESM-1b 1.00
- M105L (p.Met105Leu), ExAC rs749249239, gnomAD rs749249239, REVEL 0.51, ESM-1b 0.62
- M105V (p.Met105Val), ExAC rs749249239, gnomAD rs749249239, REVEL 0.59, ESM-1b 1.00
- K107T (p.Lys107Thr), ExAC rs780196877, gnomAD rs780196877, ESM-1b 1.00, AlphaMissense 0.53
- G109R (p.Gly109Arg), gnomAD rs1361730677, ESM-1b 1.00, AlphaMissense 0.93
- P110S (p.Pro110Ser), gnomAD rs1284367982, REVEL 0.24, ESM-1b 0.74, Uncertain significance, not specified
- D111E (p.Asp111Glu), TOPMed rs1849890784, gnomAD rs1849890784, REVEL 0.20, ESM-1b 0.00
- D111G (p.Asp111Gly), TOPMed rs888571043, ESM-1b 1.00, AlphaMissense 0.14
- D111H (p.Asp111His), NCI-TCGA Cosmic COSV9959, cosmic curated COSV99598, ESM-1b 1.00, AlphaMissense 0.29, Variant assessed as somatic; moderate impact.
- D111N (p.Asp111Asn), Ensembl rs1589839174, ESM-1b 1.00, AlphaMissense 0.09
- I113T (p.Ile113Thr), gnomAD rs1452330608, REVEL 0.33, ESM-1b 1.00
- E116D (p.Glu116Asp), NCI-TCGA Cosmic COSV5338, cosmic curated COSV53386, REVEL 0.16, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- E116G (p.Glu116Gly), ExAC rs764355045, TOPMed rs764355045, gnomAD rs764355045, REVEL 0.22, ESM-1b 0.45, Uncertain significance, not specified
- E116K (p.Glu116Lys), TOPMed rs1373094238, gnomAD rs1373094238, REVEL 0.34, ESM-1b 1.00
- I117V (p.Ile117Val), NCI-TCGA TCGA novel, REVEL 0.24, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- I119M (p.Ile119Met), Ensembl rs1849890209, ESM-1b 0.00, AlphaMissense 0.08
- D120G (p.Asp120Gly), TOPMed rs1447174401, REVEL 0.22, ESM-1b 0.00
- D120N (p.Asp120Asn), ExAC rs758572201, gnomAD rs758572201, REVEL 0.18, ESM-1b 0.01
- D121A (p.Asp121Ala), TOPMed rs1208348591, gnomAD rs1208348591, REVEL 0.27, ESM-1b 0.00
- D121E (p.Asp121Glu), ExAC rs752735637, TOPMed rs752735637, gnomAD rs752735637, REVEL 0.22, ESM-1b 0.00, Uncertain significance, not specified
- D121G (p.Asp121Gly), TOPMed rs1208348591, gnomAD rs1208348591, REVEL 0.30, ESM-1b 0.00
- S124L (p.Ser124Leu), rs1168261828, NCI-TCGA Cosmic COSV5338, cosmic curated COSV53389, TOPMed rs1168261828, REVEL 0.06, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- T125A (p.Thr125Ala), gnomAD rs1427640696, REVEL 0.04, ESM-1b 0.00
- T126A (p.Thr126Ala), NCI-TCGA Cosmic COSV9959, cosmic curated COSV99599, REVEL 0.04, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- T126I (p.Thr126Ile), TOPMed rs1849889101, REVEL 0.07, ESM-1b 0.00
- D127E (p.Asp127Glu), ExAC rs754333071, gnomAD rs754333071, ESM-1b 0.00, AlphaMissense 0.08
- D127H (p.Asp127His), ExAC rs759981170, gnomAD rs759981170, REVEL 0.36, ESM-1b 0.73
- D127V (p.Asp127Val), TOPMed rs1298120368, gnomAD rs1298120368, REVEL 0.40, ESM-1b 0.53, Uncertain significance, not specified
- T128K (p.Thr128Lys), TOPMed rs1210304204, gnomAD rs1210304204, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not specified
- T128P (p.Thr128Pro), ExAC rs766942469, TOPMed rs766942469, gnomAD rs766942469, REVEL 0.10, ESM-1b 0.00
- T128S (p.Thr128Ser), ExAC rs766942469, TOPMed rs766942469, gnomAD rs766942469, REVEL 0.07, ESM-1b 0.00
- D129G (p.Asp129Gly), ESP rs139387197, TOPMed rs139387197, gnomAD rs139387197, REVEL 0.02, ESM-1b 0.00
- G130D (p.Gly130Asp), rs895028332, ClinGen CA214679059, ClinVar RCV004158731, TOPMed rs895028332, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not specified
- G130S (p.Gly130Ser), TOPMed rs1253550793, gnomAD rs1253550793, REVEL 0.05, ESM-1b 0.00
- A131T (p.Ala131Thr), TOPMed rs1317954254, gnomAD rs1317954254, REVEL 0.05, ESM-1b 0.00
- A131V (p.Ala131Val), ExAC rs773467883, gnomAD rs773467883, REVEL 0.07, ESM-1b 0.00
- A132P (p.Ala132Pro), ExAC rs761373972, TOPMed rs761373972, gnomAD rs761373972, ESM-1b 0.00, AlphaMissense 0.08, Uncertain significance
- A132T (p.Ala132Thr), ExAC rs761373972, TOPMed rs761373972, gnomAD rs761373972, REVEL 0.05, ESM-1b 0.00, Uncertain significance, not specified
- A132V (p.Ala132Val), cosmic curated COSV53380, Ensembl rs1849887525, REVEL 0.09, ESM-1b 0.00
- E133D (p.Glu133Asp), TOPMed rs1245172658, gnomAD rs1245172658, REVEL 0.07, ESM-1b 0.00
- E133K (p.Glu133Lys), ESP rs140946996, ExAC rs140946996, TOPMed rs140946996, gnomAD rs140946996, REVEL 0.06, ESM-1b 0.00, Uncertain significance, not specified
- T134A (p.Thr134Ala), ExAC rs748872589, gnomAD rs748872589, REVEL 0.08, ESM-1b 0.00
- C135S (p.Cys135Ser), Ensembl rs1042236982, REVEL 0.32, ESM-1b 0.08
- V136F (p.Val136Phe), NCI-TCGA Cosmic COSV9959, cosmic curated COSV99599, ESM-1b 1.00, AlphaMissense 0.07, Variant assessed as somatic; moderate impact.
- S137L (p.Ser137Leu), NCI-TCGA Cosmic COSV9959, cosmic curated COSV99598, ESM-1b 1.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- V138A (p.Val138Ala), TOPMed rs1358279846, gnomAD rs1358279846, REVEL 0.14, ESM-1b 0.07
- V138L (p.Val138Leu), TOPMed rs1849886749, ESM-1b 0.00, AlphaMissense 0.08
- C140R (p.Cys140Arg), ExAC rs745627307, gnomAD rs745627307, REVEL 0.68, ESM-1b 1.00
- K142N (p.Lys142Asn), ExAC rs780882487, gnomAD rs780882487, REVEL 0.02, ESM-1b 0.90
- I144V (p.Ile144Val), TOPMed rs1210029631, REVEL 0.04, ESM-1b 0.00
- L147F (p.Leu147Phe), gnomAD rs1246254394, REVEL 0.27, ESM-1b 1.00
- R148* (p.Arg148Ter), rs1268622437, NCI-TCGA Cosmic COSV5337, cosmic curated COSV53379, gnomAD rs1268622437, CADD 41.00, Variant assessed as somatic; high impact.
- R148Q (p.Arg148Gln), rs1050289727, NCI-TCGA Cosmic COSV9959, cosmic curated COSV99599, TOPMed rs1050289727, REVEL 0.03, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- I151L (p.Ile151Leu), ExAC rs780985147, TOPMed rs780985147, gnomAD rs780985147, REVEL 0.12, ESM-1b 0.00
- I151V (p.Ile151Val), ExAC rs780985147, TOPMed rs780985147, gnomAD rs780985147, REVEL 0.12, ESM-1b 0.39
- V152I (p.Val152Ile), ExAC rs770621623, gnomAD rs770621623, REVEL 0.04, ESM-1b 0.00
- S153F (p.Ser153Phe), Ensembl rs1849793517, REVEL 0.59, ESM-1b 1.00
- V154A (p.Val154Ala), TOPMed rs893303971, gnomAD rs893303971, REVEL 0.01, ESM-1b 0.70
- V154I (p.Val154Ile), ExAC rs746876466, TOPMed rs746876466, gnomAD rs746876466, REVEL 0.04, ESM-1b 0.00
- Q155* (p.Gln155Ter), NCI-TCGA TCGA novel, CADD 39.00, Variant assessed as somatic; high impact.
- Q155L (p.Gln155Leu), ExAC rs779079783, REVEL 0.07, ESM-1b 0.00
- Q155R (p.Gln155Arg), ExAC rs779079783, REVEL 0.12, ESM-1b 0.96
- K158E (p.Lys158Glu), TOPMed rs1328457117, ESM-1b 1.00, AlphaMissense 0.30, Uncertain significance, not specified
- K158N (p.Lys158Asn), TOPMed rs1849792846, REVEL 0.12, ESM-1b 1.00
- K159Q (p.Lys159Gln), ExAC rs755246356, gnomAD rs755246356, REVEL 0.11, ESM-1b 1.00
- A162S (p.Ala162Ser), ExAC rs753870238, gnomAD rs753870238, REVEL 0.13, ESM-1b 0.00
- I163T (p.Ile163Thr), ExAC rs750879250, TOPMed rs750879250, gnomAD rs750879250, REVEL 0.14, ESM-1b 0.00, Uncertain significance, not specified
- I163V (p.Ile163Val), ExAC rs756583939, gnomAD rs756583939, REVEL 0.09, ESM-1b 0.00
- E164G (p.Glu164Gly), Ensembl rs2133421869, REVEL 0.15, ESM-1b 1.00
- E164K (p.Glu164Lys), rs1309471471, TOPMed rs1309471471, gnomAD rs1309471471, REVEL 0.13, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- E166Q (p.Glu166Gln), TOPMed rs1219788880, gnomAD rs1219788880, REVEL 0.21, ESM-1b 0.00
- N167H (p.Asn167His), NCI-TCGA TCGA novel, ESM-1b 0.94, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- N167T (p.Asn167Thr), TOPMed rs1849791806, REVEL 0.01, ESM-1b 0.12
- N167Y (p.Asn167Tyr), ExAC rs752018764, gnomAD rs752018764, REVEL 0.09, ESM-1b 1.00
- L168F (p.Leu168Phe), ExAC rs763789922, gnomAD rs763789922, REVEL 0.13, ESM-1b 0.32
- K169N (p.Lys169Asn), Ensembl rs1849791658, ESM-1b 1.00, AlphaMissense 0.32
- S170N (p.Ser170Asn), TOPMed rs1387466448, gnomAD rs1387466448, REVEL 0.06, ESM-1b 0.00
- K171R (p.Lys171Arg), rs1272594377, NCI-TCGA Cosmic COSV9959, cosmic curated COSV99598, TOPMed rs1272594377, ESM-1b 0.00, AlphaMissense 0.08, Variant assessed as somatic; moderate impact.
- V173I (p.Val173Ile), rs551678925, ClinGen CA5709395, ClinVar RCV004128299, ExAC rs551678925, REVEL 0.07, ESM-1b 0.00, Uncertain significance, not specified
- V173L (p.Val173Leu), ExAC rs551678925, TOPMed rs551678925, gnomAD rs551678925, REVEL 0.05, ESM-1b 0.00, Uncertain significance, not specified
- E174D (p.Glu174Asp), gnomAD rs1395784833, REVEL 0.12, ESM-1b 0.17
- I176V (p.Ile176Val), gnomAD rs1453178184, REVEL 0.01, ESM-1b 0.00
- E178D (p.Glu178Asp), ExAC rs143713311, TOPMed rs143713311, gnomAD rs143713311, REVEL 0.11, ESM-1b 0.00
- V179I (p.Val179Ile), gnomAD rs1185216161, REVEL 0.13, ESM-1b 0.00
- K181E (p.Lys181Glu), TOPMed rs1849682344, gnomAD rs1849682344, REVEL 0.07, ESM-1b 0.00
- K181N (p.Lys181Asn), ExAC rs766259439, gnomAD rs766259439, REVEL 0.06, ESM-1b 0.00
- V182I (p.Val182Ile), TOPMed rs1039588292, gnomAD rs1039588292, REVEL 0.05, ESM-1b 0.00
- K183Q (p.Lys183Gln), 1000Genomes rs150615231, ExAC rs150615231, REVEL 0.11, ESM-1b 1.00
- Q184K (p.Gln184Lys), gnomAD rs1252820808, REVEL 0.04, ESM-1b 0.00
- E185G (p.Glu185Gly), TOPMed rs1196125539, gnomAD rs1196125539, REVEL 0.14, ESM-1b 1.00
- K186* (p.Lys186Ter), TOPMed rs1849681691
- K186E (p.Lys186Glu), TOPMed rs1849681691, ESM-1b 1.00, AlphaMissense 0.19
- K186N (p.Lys186Asn), rs772929190, NCI-TCGA Cosmic COSV5338, cosmic curated COSV53380, ExAC rs772929190, REVEL 0.04, ESM-1b 0.00, Variant assessed as somatic; moderate impact.
- T187S (p.Thr187Ser), TOPMed rs1170502239, REVEL 0.05, ESM-1b 0.00
- N190K (p.Asn190Lys), gnomAD rs1849681048, REVEL 0.06, ESM-1b 0.33
- V193L (p.Val193Leu), TOPMed rs1849680885, REVEL 0.17, ESM-1b 0.00
- V199I (p.Val199Ile), NCI-TCGA TCGA novel, ESM-1b 0.00, AlphaMissense 0.10, Variant assessed as somatic; moderate impact.
- V199L (p.Val199Leu), TOPMed rs1481936754, gnomAD rs1481936754, REVEL 0.06, ESM-1b 0.00
Public SHTN1 analysis runs
- SHTN1 analysis run — SHTN1 (776 variants) — completed 2026-05-31