G74R (p.Gly74Arg) variant of KRT17 (Keratin, type I cytoskeletal 17)
G74R (p.Gly74Arg) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G74R (p.Gly74Arg) variant details
- p.Gly74Arg
- ESP rs368097553
- ExAC rs368097553
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.53
- CADD 23.70
- PolyPhen-2 0.61
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available