G103C (p.Gly103Cys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G103C (p.Gly103Cys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G103C (p.Gly103Cys) variant details
- p.Gly103Cys
- 1000Genomes rs548869463
- ExAC rs548869463
- TOPMed rs548869463
- gnomAD rs548869463
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.50
- CADD 22.60
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available