P57A (p.Pro57Ala) variant of RAG1 (P15918)
P57A (p.Pro57Ala) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
P57A (p.Pro57Ala) variant details
- p.Pro57Ala
- gnomAD 11-36573473-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0533
- REVEL 0.04
- CADD 0.71
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available