G121D (p.Gly121Asp) variant of KRT2 (P35908)
G121D (p.Gly121Asp) 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.
G121D (p.Gly121Asp) variant details
- p.Gly121Asp
- Ensembl rs916634169
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.40
- CADD 15.70
- PolyPhen-2 0.21
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available