G87S (p.Gly87Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
G87S (p.Gly87Ser) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G87S (p.Gly87Ser) variant details
- p.Gly87Ser
- cosmic curated COSV10801
- ExAC rs746998705
- TOPMed rs746998705
- gnomAD rs746998705
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.11
- CADD 12.70
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available