V28F (p.Val28Phe) variant of KRT6A (Keratin, type II cytoskeletal 6A)
V28F (p.Val28Phe) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V28F (p.Val28Phe) variant details
- p.Val28Phe
- ExAC rs771263689
- gnomAD rs771263689
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.12
- CADD 7.93
- PolyPhen-2 0.02
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available