G110D (p.Gly110Asp) variant of KRT2 (P35908)
G110D (p.Gly110Asp) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G110D (p.Gly110Asp) variant details
- p.Gly110Asp
- TOPMed rs1339589023
- gnomAD rs1339589023
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.30
- CADD 22.30
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available