A81V (p.Ala81Val) variant of KRT17 (Keratin, type I cytoskeletal 17)
A81V (p.Ala81Val) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, 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 0.14 / 1. The record also includes population frequency data and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- ExAC rs769139580
- TOPMed rs769139580
- gnomAD rs769139580
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.11
- CADD 3.98
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available