I72V (p.Ile72Val) variant of KRT6B (Keratin, type II cytoskeletal 6B)
I72V (p.Ile72Val) in KRT6B (Keratin, type II cytoskeletal 6B) 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.
I72V (p.Ile72Val) variant details
- p.Ile72Val
- ExAC rs764630392
- gnomAD rs764630392
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.02
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available