A116S (p.Ala116Ser) variant of KRT13 (Keratin, type I cytoskeletal 13)
A116S (p.Ala116Ser) 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 0.80 / 1. The record also includes population frequency data and structural context.
A116S (p.Ala116Ser) variant details
- p.Ala116Ser
- ESP rs376484003
- ExAC rs376484003
- TOPMed rs376484003
- gnomAD rs376484003
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.81
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available