G70W (p.Gly70Trp) variant of KRT12 (Keratin, type I cytoskeletal 12)
G70W (p.Gly70Trp) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G70W (p.Gly70Trp) variant details
- p.Gly70Trp
- gnomAD rs1467795002
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.36
- CADD 22.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available