G123R (p.Gly123Arg) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G123R (p.Gly123Arg) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
G123R (p.Gly123Arg) variant details
- p.Gly123Arg
- ExAC rs750145364
- TOPMed rs750145364
- gnomAD rs750145364
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.66
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available