R12G (p.Arg12Gly) variant of KRT2 (P35908)
R12G (p.Arg12Gly) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- TOPMed rs1287579252
- gnomAD rs1287579252
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.25
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available