F102V (p.Phe102Val) variant of KRT6A (Keratin, type II cytoskeletal 6A)
F102V (p.Phe102Val) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
F102V (p.Phe102Val) variant details
- p.Phe102Val
- TOPMed rs1191581625
- gnomAD rs1191581625
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.31
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 0.44
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available