G79V (p.Gly79Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
G79V (p.Gly79Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G79V (p.Gly79Val) variant details
- p.Gly79Val
- gnomAD rs1314156665
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.49
- CADD 19.80
- PolyPhen-2 0.93
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available