G27V (p.Gly27Val) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G27V (p.Gly27Val) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- TOPMed rs1940415442
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.13
- CADD 17.10
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available