A54G (p.Ala54Gly) variant of KRT6B (Keratin, type II cytoskeletal 6B)
A54G (p.Ala54Gly) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- ExAC rs775438004
- gnomAD rs775438004
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.13
- CADD 14.30
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available