G117R (p.Gly117Arg) variant of KRT2 (P35908)
G117R (p.Gly117Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G117R (p.Gly117Arg) variant details
- p.Gly117Arg
- 1000Genomes rs150026966
- ESP rs150026966
- ExAC rs150026966
- TOPMed rs150026966
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.16
- CADD 0.81
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available