KRT16 (Keratin, type I cytoskeletal 16) variants and mutations
KRT16 (also known as Keratin, type I cytoskeletal 16) is a human protein-coding gene encoding a keratin, type I cytoskeletal 16 protein. It is induced in mechanically stressed and repairing epithelia and helps reinforce keratinocyte intermediate filaments. Dominant pathogenic variants can cause pachyonychia congenita and focal palmoplantar keratoderma with painful hyperkeratosis. This analysis covers 910 KRT16 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes pachyonychia congenita, palmoplantar keratoderma, nonepidermolytic, focal 1, and pachyonychia congenita 1. Example KRT16 variants include T2I, T2N, and T2P.
Variant analysis overview
- Gene: KRT16
- Protein: Keratin, type I cytoskeletal 16
- UniProt accession: P08779
- Organism: Homo sapiens
- Variants analyzed: 910
- Variant scope: all variants
- Completed: 2026-08-22
Variant and mutation evidence
- Variant composition: 664 unspecified-consequence records; 1 stop lost; 111 synonymous variants; 111 missense variants; 7 stop-gained variants; 2 in-frame deletions; 10 frameshift variants; 1 in-frame insertions; 2 splice-region variants; 4 substitution
- Prediction scores: 740 variants have prediction scores (81% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: pachyonychia congenita, palmoplantar keratoderma, nonepidermolytic, focal 1, pachyonychia congenita 1, Non-epidermolytic palmoplantar keratoderma, focal palmoplantar keratoderma, hereditary disease, palmoplantar keratoderma, epidermolytic, Localized epidermolytic hyperkeratosis, psoriasis, neoplasm, non-small cell lung carcinoma, breast carcinoma.
Protein structure and variant hotspots
- Protein features: 1 domains.
- Structural context: 607 variants have structural context.
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, MaveDB, LitVar.
Notable KRT16 variants
Examples include T2I, T2N, T2P, T2S, T3I, T3P, C4G, S5N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- T2I (p.Thr2Ile), ExAC rs752063430, TOPMed rs752063430, gnomAD rs752063430, REVEL 0.29, CADD 23.30
- T2N (p.Thr2Asn), ExAC rs752063430, TOPMed rs752063430, gnomAD rs752063430, REVEL 0.22, CADD 23.00
- T2P (p.Thr2Pro), Ensembl rs1597686610
- T2S (p.Thr2Ser), ExAC rs752063430, TOPMed rs752063430, gnomAD rs752063430, REVEL 0.06, CADD 20.40
- T3I (p.Thr3Ile), ExAC rs763043015, TOPMed rs763043015, gnomAD rs763043015, REVEL 0.48, CADD 24.80
- T3P (p.Thr3Pro), Ensembl rs1597686600
- C4G (p.Cys4Gly), rs2508756930, ClinGen CA399497551, ClinVar RCV003365014, Uncertain significance, Inborn genetic diseases
- S5N (p.Ser5Asn), gnomAD rs1214203238, REVEL 0.21, CADD 21.40
- S5T (p.Ser5Thr), gnomAD rs1214203238
- R6C (p.Arg6Cys), ExAC rs752729625, TOPMed rs752729625, gnomAD rs752729625, REVEL 0.34, CADD 23.40
- R6H (p.Arg6His), rs765533099, ExAC rs765533099, TOPMed rs765533099, gnomAD rs765533099, REVEL 0.15, CADD 19.30, Uncertain significance
- R6L (p.Arg6Leu), rs765533099, ClinGen CA8563375, ClinVar RCV003173503, ExAC rs765533099, REVEL 0.32, CADD 20.60, Uncertain significance, Inborn genetic diseases
- R6S (p.Arg6Ser), ExAC rs752729625, TOPMed rs752729625, gnomAD rs752729625, REVEL 0.21, CADD 22.30
- Q7R (p.Gln7Arg), TOPMed rs1302621658, gnomAD rs1302621658, REVEL 0.24, CADD 22.90
- F8L (p.Phe8Leu), TOPMed rs1433574976, gnomAD rs1433574976, NCI-TCGA Cosmic COSV1000, REVEL 0.25, CADD 22.30, Variant assessed as somatic; moderate impact.
- T9I (p.Thr9Ile), TOPMed rs1407246468, gnomAD rs1407246468, REVEL 0.28, CADD 23.50
- S10Y (p.Ser10Tyr), TOPMed rs1908251083, REVEL 0.49, CADD 26.90
- S11Y (p.Ser11Tyr), TOPMed rs1908250945, REVEL 0.53, CADD 25.30
- S12N (p.Ser12Asn), gnomAD rs1391763493, REVEL 0.17, CADD 21.20
- S12R (p.Ser12Arg), ExAC rs759651770, TOPMed rs759651770, gnomAD rs759651770, REVEL 0.17, CADD 23.90
- S13A (p.Ser13Ala), TOPMed rs1908250602
- S13C (p.Ser13Cys), Ensembl rs1908250523, REVEL 0.35, CADD 23.90
- S13F (p.Ser13Phe), NCI-TCGA Cosmic COSV5696, REVEL 0.49, CADD 27.00, Variant assessed as somatic; moderate impact.
- M14R (p.Met14Arg), TOPMed rs1343775716, gnomAD rs1343775716
- M14T (p.Met14Thr), TOPMed rs1343775716, gnomAD rs1343775716, REVEL 0.21, CADD 22.00
- M14V (p.Met14Val), TOPMed rs1297477991, REVEL 0.19, CADD 8.74
- K15* (p.Lys15Ter), rs267607409, ClinGen CA217390, ClinVar RCV000057043, gnomAD rs267607409
- K15E (p.Lys15Glu), gnomAD rs267607409, REVEL 0.30, CADD 24.20
- G16V (p.Gly16Val), gnomAD rs1360364508, REVEL 0.53, CADD 22.80, Uncertain significance, Inborn genetic diseases
- S17T (p.Ser17Thr), rs2508756857, ClinGen CA399497151, ClinVar RCV004412203, REVEL 0.11, CADD 16.20, Uncertain significance, Inborn genetic diseases
- C18* (p.Cys18Ter), rs184161015, ClinGen CA8563371, ClinVar RCV000900590, 1000Genomes rs184161015, CADD 28.00, Likely benign
- G19S (p.Gly19Ser), ESP rs373193001, ExAC rs373193001, TOPMed rs373193001, gnomAD rs373193001, REVEL 0.20, CADD 10.90
- I20M (p.Ile20Met), ExAC rs748848000, TOPMed rs748848000, gnomAD rs748848000, REVEL 0.04, CADD 0.61, Likely benign
- G21* (p.Gly21Ter), NCI-TCGA TCGA novel, CADD 33.00, Variant assessed as somatic; high impact.
- G21R (p.Gly21Arg), rs779409999, ClinGen CA8563367, ClinVar RCV002710677, ExAC rs779409999, REVEL 0.29, CADD 20.20, Uncertain significance, not provided
- G22D (p.Gly22Asp), TOPMed rs1191152826, gnomAD rs1191152826, REVEL 0.18, CADD 9.50
- G22V (p.Gly22Val), TOPMed rs1191152826, gnomAD rs1191152826
- G23C (p.Gly23Cys), 1000Genomes rs7226192, ESP rs7226192, ExAC rs7226192, TOPMed rs7226192, REVEL 0.42, CADD 17.70, Benign
- G23R (p.Gly23Arg), 1000Genomes rs7226192, ESP rs7226192, ExAC rs7226192, TOPMed rs7226192, Benign
- G23S (p.Gly23Ser), rs7226192, ClinGen CA8563365, ClinVar RCV000968354, ClinVar RCV002489400, REVEL 0.31, CADD 15.90, Benign/Likely benign, Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolytic, focal 1; n
- I24L (p.Ile24Leu), Ensembl rs2144605267
- I24M (p.Ile24Met), TOPMed rs1040804862, gnomAD rs1040804862
- G25E (p.Gly25Glu), gnomAD rs1254288318, REVEL 0.13, CADD 14.60
- G25R (p.Gly25Arg), ExAC rs780828113, TOPMed rs780828113, gnomAD rs780828113, REVEL 0.15, CADD 15.40
- G25W (p.Gly25Trp), NCI-TCGA Cosmic COSV5697, Variant assessed as somatic; moderate impact.
- G26A (p.Gly26Ala), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- G26D (p.Gly26Asp), gnomAD rs1377935373, REVEL 0.34, CADD 22.40
- G27A (p.Gly27Ala), gnomAD rs1398447203, REVEL 0.47, CADD 20.70
- G27R (p.Gly27Arg), TOPMed rs1285438277, gnomAD rs1285438277, REVEL 0.52, CADD 22.00
- G27S (p.Gly27Ser), TOPMed rs1285438277, gnomAD rs1285438277, REVEL 0.38, CADD 21.10
- S28P (p.Ser28Pro), ExAC rs200236413, gnomAD rs200236413, REVEL 0.41, CADD 23.90
- S29I (p.Ser29Ile), Ensembl rs1908247793, REVEL 0.23, CADD 22.70
- S29N (p.Ser29Asn), NCI-TCGA Cosmic COSV5696, REVEL 0.12, CADD 21.70, Variant assessed as somatic; moderate impact.
- S29R (p.Ser29Arg), 1000Genomes rs758867324, ExAC rs758867324, TOPMed rs758867324, gnomAD rs758867324, REVEL 0.18, CADD 17.10
- R30C (p.Arg30Cys), ExAC rs752819625, TOPMed rs752819625, gnomAD rs752819625, REVEL 0.38, CADD 19.90, Uncertain significance
- R30H (p.Arg30His), rs765215802, NCI-TCGA Cosmic COSV5696, 1000Genomes rs765215802, ExAC rs765215802, REVEL 0.28, CADD 22.50, Variant assessed as somatic; moderate impact.
- R30L (p.Arg30Leu), 1000Genomes rs765215802, ExAC rs765215802, TOPMed rs765215802, gnomAD rs765215802, REVEL 0.35, CADD 21.80
- R30S (p.Arg30Ser), ExAC rs752819625, TOPMed rs752819625, gnomAD rs752819625, REVEL 0.34, CADD 21.60, Uncertain significance, Inborn genetic diseases
- I31L (p.Ile31Leu), TOPMed rs944892887, gnomAD rs944892887, REVEL 0.11, CADD 12.20
- I31V (p.Ile31Val), TOPMed rs944892887, gnomAD rs944892887, REVEL 0.11, CADD 5.24
- S32F (p.Ser32Phe), ExAC rs755292687, TOPMed rs755292687, gnomAD rs755292687, REVEL 0.32, CADD 22.80
- S32Y (p.Ser32Tyr), ExAC rs755292687, TOPMed rs755292687, gnomAD rs755292687
- S33C (p.Ser33Cys), rs754023343, ClinGen CA8563355, ClinVar RCV002670149, ExAC rs754023343, REVEL 0.31, CADD 24.10, Uncertain significance, Inborn genetic diseases
- V34F (p.Val34Phe), 1000Genomes rs530326477, ExAC rs530326477, TOPMed rs530326477, gnomAD rs530326477, REVEL 0.23, CADD 7.87, Uncertain significance, Inborn genetic diseases
- V34I (p.Val34Ile), rs530326477, NCI-TCGA Cosmic COSV5696, 1000Genomes rs530326477, ExAC rs530326477, REVEL 0.06, CADD 3.25, Variant assessed as somatic; moderate impact.
- A36T (p.Ala36Thr), gnomAD rs1255408475, REVEL 0.07, CADD 1.90
- G37E (p.Gly37Glu), ExAC rs762970825, gnomAD rs762970825, REVEL 0.36, CADD 15.00
- G37R (p.Gly37Arg), rs1324353859, TOPMed rs1324353859, gnomAD rs1324353859, REVEL 0.14, CADD 13.00, Variant assessed as somatic; moderate impact.
- G37V (p.Gly37Val), ExAC rs762970825, gnomAD rs762970825, REVEL 0.32, CADD 14.40
- G38E (p.Gly38Glu), rs1216992535, ClinGen CA399496534, ClinVar RCV001991207, gnomAD rs1216992535, Uncertain significance, not provided
- G38W (p.Gly38Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S39F (p.Ser39Phe), NCI-TCGA Cosmic COSV5697, REVEL 0.27, CADD 22.70, Variant assessed as somatic; moderate impact.
- C40F (p.Cys40Phe), TOPMed rs1908245678, REVEL 0.13, CADD 16.10
- C40S (p.Cys40Ser), gnomAD rs1271086138, REVEL 0.16, CADD 21.90
- C40Y (p.Cys40Tyr), TOPMed rs1908245678
- R41C (p.Arg41Cys), rs111383277, ClinGen CA8563349, ClinVar RCV002132110, ClinVar RCV003978711, REVEL 0.39, CADD 24.50, Benign, not provided
- R41G (p.Arg41Gly), 1000Genomes rs111383277, ESP rs111383277, ExAC rs111383277, TOPMed rs111383277, REVEL 0.29, CADD 22.30, Uncertain significance, not provided
- R41H (p.Arg41His), ExAC rs1133106, TOPMed rs1133106, gnomAD rs1133106, REVEL 0.32, CADD 22.70
- R41P (p.Arg41Pro), ExAC rs1133106, TOPMed rs1133106, gnomAD rs1133106, REVEL 0.56, CADD 22.80
- R41S (p.Arg41Ser), 1000Genomes rs111383277, ESP rs111383277, ExAC rs111383277, TOPMed rs111383277, REVEL 0.45, CADD 22.30, Benign
- A42D (p.Ala42Asp), ESP rs201289840, ExAC rs201289840, TOPMed rs201289840, gnomAD rs201289840, REVEL 0.40, CADD 20.40, Uncertain significance
- A42T (p.Ala42Thr), NCI-TCGA TCGA novel, REVEL 0.21, CADD 16.70, Variant assessed as somatic; moderate impact.
- A42V (p.Ala42Val), rs201289840, ClinGen CA8563346, ClinVar RCV003175874, ESP rs201289840, REVEL 0.26, CADD 15.70, Uncertain significance, Inborn genetic diseases
- P43S (p.Pro43Ser), gnomAD rs1328735798
- S44N (p.Ser44Asn), gnomAD rs1464743201
- T45A (p.Thr45Ala), ExAC rs778084613, TOPMed rs778084613, gnomAD rs778084613, REVEL 0.10, CADD 1.25
- T45S (p.Thr45Ser), ExAC rs778084613, TOPMed rs778084613, gnomAD rs778084613
- Y46* (p.Tyr46Ter), 1000Genomes rs377057928, ESP rs377057928, ExAC rs377057928, TOPMed rs377057928, CADD 32.00, Likely benign
- G47R (p.Gly47Arg), ExAC rs779420236, TOPMed rs779420236, gnomAD rs779420236, REVEL 0.57, CADD 21.20
- G48D (p.Gly48Asp), gnomAD rs1188136093, REVEL 0.35, CADD 20.10
- G49S (p.Gly49Ser), ExAC rs755038313, TOPMed rs755038313, gnomAD rs755038313, REVEL 0.22, CADD 15.00, Uncertain significance, not provided
- L50P (p.Leu50Pro), TOPMed rs1225935439, gnomAD rs1225935439, REVEL 0.34, CADD 23.40
- L50R (p.Leu50Arg), TOPMed rs1225935439, gnomAD rs1225935439, REVEL 0.27, CADD 21.70
- S51C (p.Ser51Cys), ESP rs372013961, ExAC rs372013961, TOPMed rs372013961, gnomAD rs372013961, REVEL 0.25, CADD 23.90
- S51F (p.Ser51Phe), NCI-TCGA Cosmic COSV5696, REVEL 0.41, CADD 23.90, Variant assessed as somatic; moderate impact.
- S51P (p.Ser51Pro), ExAC rs766554537, TOPMed rs766554537, gnomAD rs766554537, REVEL 0.42, CADD 23.20
- V52I (p.Val52Ile), rs751458816, ExAC rs751458816, gnomAD rs751458816, REVEL 0.19, CADD 18.80, Variant assessed as somatic; moderate impact.
- S54Y (p.Ser54Tyr), gnomAD rs1385661935, REVEL 0.33, CADD 22.90
- R55C (p.Arg55Cys), rs532092611, 1000Genomes rs532092611, ExAC rs532092611, TOPMed rs532092611, REVEL 0.51, CADD 23.20, Likely benign, not provided
- R55H (p.Arg55His), TOPMed rs1445424962, gnomAD rs1445424962, REVEL 0.47, CADD 24.90
- R55L (p.Arg55Leu), TOPMed rs1445424962, gnomAD rs1445424962, REVEL 0.59, CADD 23.30
- R55P (p.Arg55Pro), TOPMed rs1445424962, gnomAD rs1445424962, REVEL 0.57, CADD 23.40
- S57A (p.Ser57Ala), Ensembl rs1908242322
- S57C (p.Ser57Cys), TOPMed rs1908242150
- S57F (p.Ser57Phe), TOPMed rs1908242150, REVEL 0.22, CADD 21.70
- S57P (p.Ser57Pro), Ensembl rs1908242322, REVEL 0.38, CADD 25.80
- S58A (p.Ser58Ala), ExAC rs762772172, gnomAD rs762772172, REVEL 0.24, CADD 21.40
- S58F (p.Ser58Phe), ExAC rs775300928, TOPMed rs775300928, gnomAD rs775300928, REVEL 0.48, CADD 24.80
- S58Y (p.Ser58Tyr), ExAC rs775300928, TOPMed rs775300928, gnomAD rs775300928, REVEL 0.42, CADD 24.30
- G59E (p.Gly59Glu), TOPMed rs1446312984, gnomAD rs1446312984, REVEL 0.40, CADD 17.40
- G59R (p.Gly59Arg), ExAC rs765169539, gnomAD rs765169539, REVEL 0.21, CADD 16.20, Uncertain significance
- G59W (p.Gly59Trp), rs765169539, ClinGen CA399496066, ClinVar RCV001354876, ExAC rs765169539, REVEL 0.40, CADD 23.20, Uncertain significance, not provided
- G60E (p.Gly60Glu), gnomAD rs1176783222, REVEL 0.32, CADD 19.90
- A61T (p.Ala61Thr), ExAC rs758996794, gnomAD rs758996794, REVEL 0.06, CADD 17.30
- A61V (p.Ala61Val), rs2508756525, ClinGen CA399496022, ClinVar RCV004412202, Uncertain significance, Inborn genetic diseases
- C62* (p.Cys62Ter), 1000Genomes rs200450332, ExAC rs200450332, TOPMed rs200450332, gnomAD rs200450332, CADD 25.30, Likely benign
- C62Y (p.Cys62Tyr), rs367990963, 1000Genomes rs367990963, ESP rs367990963, ExAC rs367990963, REVEL 0.19, CADD 20.40, Likely benign, not provided
- G63R (p.Gly63Arg), ExAC rs773632453, TOPMed rs773632453, gnomAD rs773632453, REVEL 0.52, CADD 21.80
- G63W (p.Gly63Trp), ExAC rs773632453, TOPMed rs773632453, gnomAD rs773632453, REVEL 0.52, CADD 22.60
- G65R (p.Gly65Arg), ExAC rs772429436, TOPMed rs772429436, gnomAD rs772429436, REVEL 0.56, CADD 19.40
- G65W (p.Gly65Trp), NCI-TCGA TCGA novel, REVEL 0.54, CADD 24.40, Variant assessed as somatic; moderate impact.
- G66C (p.Gly66Cys), Ensembl rs1567745678, REVEL 0.48, CADD 23.40
- G66D (p.Gly66Asp), TOPMed rs1307719812, gnomAD rs1307719812, REVEL 0.56, CADD 22.80
- G67C (p.Gly67Cys), 1000Genomes rs62066634, ESP rs62066634, ExAC rs62066634, TOPMed rs62066634, REVEL 0.28, CADD 13.00, Benign
- G67D (p.Gly67Asp), TOPMed rs1373417012, gnomAD rs1373417012, REVEL 0.46, CADD 21.60
- G67S (p.Gly67Ser), rs62066634, ClinGen CA8563320, ClinVar RCV000960183, 1000Genomes rs62066634, REVEL 0.17, CADD 8.70, Benign/Likely benign, not provided
- Y68* (p.Tyr68Ter), Ensembl rs1567745656
- Y68S (p.Tyr68Ser), ExAC rs749376152, TOPMed rs749376152, gnomAD rs749376152, REVEL 0.16, CADD 16.00
- G70D (p.Gly70Asp), gnomAD rs1908239036, REVEL 0.32, CADD 11.30
- G70R (p.Gly70Arg), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G70S (p.Gly70Ser), ExAC rs750681506, TOPMed rs750681506, gnomAD rs750681506, REVEL 0.20, CADD 9.10
- G71A (p.Gly71Ala), rs144088254, ClinGen CA8563313, ClinVar RCV000957965, 1000Genomes rs144088254, REVEL 0.13, CADD 16.30, Benign, not provided
- G71D (p.Gly71Asp), 1000Genomes rs144088254, ESP rs144088254, ExAC rs144088254, TOPMed rs144088254, REVEL 0.26, CADD 21.40, Benign
- G71S (p.Gly71Ser), gnomAD rs1358460741, REVEL 0.02, CADD 9.21
- G71V (p.Gly71Val), 1000Genomes rs144088254, ESP rs144088254, ExAC rs144088254, TOPMed rs144088254, REVEL 0.21, CADD 17.30, Benign
- S73N (p.Ser73Asn), gnomAD rs1257388530, REVEL 0.25, CADD 22.50, Uncertain significance, not provided
- S75N (p.Ser75Asn), Ensembl rs2144604897
- S76N (p.Ser76Asn), ESP rs374118704, TOPMed rs374118704, gnomAD rs374118704, REVEL 0.28, CADD 18.30
- S77I (p.Ser77Ile), TOPMed rs1908238256
- G79D (p.Gly79Asp), TOPMed rs1908237957, REVEL 0.44, CADD 18.90
- G83R (p.Gly83Arg), ExAC rs765123824, TOPMed rs765123824, gnomAD rs765123824, REVEL 0.43, CADD 21.10
- G84A (p.Gly84Ala), TOPMed rs267604878, gnomAD rs267604878, REVEL 0.22, CADD 9.17
- G84E (p.Gly84Glu), TOPMed rs267604878, gnomAD rs267604878, REVEL 0.29, CADD 15.80
- G84V (p.Gly84Val), TOPMed rs267604878, gnomAD rs267604878
- G85V (p.Gly85Val), gnomAD rs1200519425, REVEL 0.42, CADD 8.16
- G87C (p.Gly87Cys), gnomAD rs1490942621, REVEL 0.34, CADD 22.70
- G87D (p.Gly87Asp), Ensembl rs1567745601, REVEL 0.40, CADD 22.40
- G87V (p.Gly87Val), Ensembl rs1567745601
- G88S (p.Gly88Ser), NCI-TCGA Cosmic COSV5696, Variant assessed as somatic; moderate impact.
- G88V (p.Gly88Val), gnomAD rs1908237027
- G89S (p.Gly89Ser), rs1284398998, ClinGen CA399495505, ClinVar RCV002978559, TOPMed rs1284398998, REVEL 0.32, CADD 9.92, Uncertain significance, Inborn genetic diseases
- L90F (p.Leu90Phe), 1000Genomes rs2144604826
- G91S (p.Gly91Ser), TOPMed rs1285683912, gnomAD rs1285683912, REVEL 0.36, CADD 13.30
- A92S (p.Ala92Ser), ExAC rs760109907, TOPMed rs760109907, gnomAD rs760109907, REVEL 0.19, CADD 3.28
- A92V (p.Ala92Val), gnomAD rs1343765163, REVEL 0.22, CADD 0.01
- F94L (p.Phe94Leu), 1000Genomes rs570977410, ExAC rs570977410, TOPMed rs570977410, gnomAD rs570977410, REVEL 0.21, CADD 0.00, Likely benign
- G95R (p.Gly95Arg), 1000Genomes rs559055782, ExAC rs559055782, TOPMed rs559055782, gnomAD rs559055782, REVEL 0.65, CADD 14.60
- G95S (p.Gly95Ser), 1000Genomes rs559055782, ExAC rs559055782, TOPMed rs559055782, gnomAD rs559055782, REVEL 0.30, CADD 6.18
- G96S (p.Gly96Ser), NCI-TCGA Cosmic COSV1000, Variant assessed as somatic; moderate impact.
- G97S (p.Gly97Ser), Ensembl rs1295347923, REVEL 0.28, CADD 13.90
- G97V (p.Gly97Val), TOPMed rs1338121048, gnomAD rs1338121048, REVEL 0.56, CADD 20.50
- L98F (p.Leu98Phe), ExAC rs780644845, gnomAD rs780644845, REVEL 0.20, CADD 0.00
- L98V (p.Leu98Val), ExAC rs749801602, gnomAD rs749801602, REVEL 0.08, CADD 0.81
- G99D (p.Gly99Asp), Ensembl rs1908235657, REVEL 0.41, CADD 16.80
- A100G (p.Ala100Gly), rs140537366, ClinGen CA8563296, ClinVar RCV002923067, ExAC rs140537366, REVEL 0.18, CADD 0.02, Likely benign, not provided
- A100T (p.Ala100Thr), Ensembl rs1214652519, REVEL 0.09, CADD 11.30
- A100V (p.Ala100Val), ExAC rs140537366, TOPMed rs140537366, gnomAD rs140537366, REVEL 0.18, CADD 0.41, Likely benign
- G101D (p.Gly101Asp), Ensembl rs2144604781, REVEL 0.35, CADD 22.80
- F102L (p.Phe102Leu), rs151282702, ClinGen CA8563295, ClinVar RCV001399279, ClinVar RCV002552710, REVEL 0.15, CADD 0.01, Conflicting interpretations, Inborn genetic diseases; not provided
- F102V (p.Phe102Val), NCI-TCGA Cosmic COSV5696, Variant assessed as somatic; moderate impact.
- G103A (p.Gly103Ala), TOPMed rs1428768777, gnomAD rs1428768777, REVEL 0.17, CADD 7.92
- G103C (p.Gly103Cys), NCI-TCGA Cosmic COSV1000, Ensembl rs1908234782, Variant assessed as somatic; moderate impact.
- G103V (p.Gly103Val), TOPMed rs1428768777, gnomAD rs1428768777
- G104V (p.Gly104Val), gnomAD rs1177405639, REVEL 0.18, CADD 0.16
- F106S (p.Phe106Ser), ExAC rs757466593, TOPMed rs757466593, gnomAD rs757466593, REVEL 0.19, CADD 12.50
- F106Y (p.Phe106Tyr), ExAC rs757466593, TOPMed rs757466593, gnomAD rs757466593, REVEL 0.11, CADD 9.14
- A107T (p.Ala107Thr), gnomAD rs1486444725, REVEL 0.20, CADD 9.58
- A107V (p.Ala107Val), TOPMed rs1242962111
- G108S (p.Gly108Ser), TOPMed rs1908233890
- G109S (p.Gly109Ser), TOPMed rs1244335082, gnomAD rs1244335082, REVEL 0.14, CADD 10.40
Public KRT16 analysis runs
- KRT16 analysis run — KRT16 (910 variants) — completed 2026-08-22