G120C (p.Gly120Cys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G120C (p.Gly120Cys) in KRT6A (Keratin, type II cytoskeletal 6A) 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.
G120C (p.Gly120Cys) variant details
- p.Gly120Cys
- TOPMed rs1938296666
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.46
- CADD 24.60
- PolyPhen-2 0.71
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available