D70H (p.Asp70His) variant of RAG1 (P15918)
D70H (p.Asp70His) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D70H (p.Asp70His) variant details
- p.Asp70His
- gnomAD 11-36573512-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.06
- CADD 15.40
- PolyPhen-2 0.11
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available