G70V (p.Gly70Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
G70V (p.Gly70Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G70V (p.Gly70Val) variant details
- p.Gly70Val
- TOPMed rs1427940484
- gnomAD rs1427940484
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.37
- CADD 22.50
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available