G17V (p.Gly17Val) variant of KRT6B (Keratin, type II cytoskeletal 6B)
G17V (p.Gly17Val) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G17V (p.Gly17Val) variant details
- p.Gly17Val
- ExAC rs757055827
- TOPMed rs757055827
- gnomAD rs757055827
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.08
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available