G68R (p.Gly68Arg) variant of KRT2 (P35908)
G68R (p.Gly68Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G68R (p.Gly68Arg) variant details
- p.Gly68Arg
- ExAC rs766275520
- gnomAD rs766275520
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.50
- CADD 24.00
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available