G51R (p.Gly51Arg) variant of KRT2 (P35908)
G51R (p.Gly51Arg) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G51R (p.Gly51Arg) variant details
- p.Gly51Arg
- TOPMed rs200226673
- gnomAD rs200226673
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.51
- CADD 9.49
- PolyPhen-2 0.11
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available