G74V (p.Gly74Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
G74V (p.Gly74Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G74V (p.Gly74Val) variant details
- p.Gly74Val
- gnomAD rs1450062310
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.15
- CADD 2.19
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available