V65D (p.Val65Asp) variant of RAG1 (P15918)
V65D (p.Val65Asp) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V65D (p.Val65Asp) variant details
- p.Val65Asp
- gnomAD 11-36573498-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.23
- CADD 12.50
- PolyPhen-2 0.17
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available