G92C (p.Gly92Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
G92C (p.Gly92Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G92C (p.Gly92Cys) variant details
- p.Gly92Cys
- gnomAD rs1206403081
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.45
- CADD 18.80
- PolyPhen-2 0.96
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available