G51C (p.Gly51Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
G51C (p.Gly51Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G51C (p.Gly51Cys) variant details
- p.Gly51Cys
- gnomAD rs1412235362
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.31
- CADD 6.77
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available