G82D (p.Gly82Asp) variant of KRT2 (P35908)
G82D (p.Gly82Asp) 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.
G82D (p.Gly82Asp) variant details
- p.Gly82Asp
- gnomAD rs1274172865
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.45
- CADD 17.00
- PolyPhen-2 0.12
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available