G47R (p.Gly47Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
G47R (p.Gly47Arg) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- ExAC rs779420236
- TOPMed rs779420236
- gnomAD rs779420236
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.57
- CADD 21.20
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available