A86V (p.Ala86Val) variant of KRT13 (Keratin, type I cytoskeletal 13)
A86V (p.Ala86Val) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A86V (p.Ala86Val) variant details
- p.Ala86Val
- TOPMed rs920200832
- gnomAD rs920200832
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.07
- CADD 11.30
- PolyPhen-2 0.18
- SIFT 0.21
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available