D67H (p.Asp67His) variant of RAG1 (P15918)
D67H (p.Asp67His) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
D67H (p.Asp67His) variant details
- p.Asp67His
- gnomAD rs1284430302
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.19
- MetaLR 0.27
- MetaSVM -0.71
- CADD 19.70
- PolyPhen-2 0.35
- SIFT 0.07
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available