A20V (p.Ala20Val) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A20V (p.Ala20Val) 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.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- ESP rs374567840
- ExAC rs374567840
- gnomAD rs374567840
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.11
- CADD 19.10
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available