G45C (p.Gly45Cys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G45C (p.Gly45Cys) in KRT6A (Keratin, type II cytoskeletal 6A) 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.
G45C (p.Gly45Cys) variant details
- p.Gly45Cys
- TOPMed rs1421381314
- gnomAD rs1421381314
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.51
- CADD 24.50
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available