G75R (p.Gly75Arg) variant of KRT13 (Keratin, type I cytoskeletal 13)
G75R (p.Gly75Arg) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G75R (p.Gly75Arg) variant details
- p.Gly75Arg
- ExAC rs768722370
- TOPMed rs768722370
- gnomAD rs768722370
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.40
- CADD 19.60
- PolyPhen-2 0.99
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available