G112V (p.Gly112Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
G112V (p.Gly112Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G112V (p.Gly112Val) variant details
- p.Gly112Val
- ExAC rs760710214
- gnomAD rs760710214
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.51
- CADD 17.60
- PolyPhen-2 0.13
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available