L32M (p.Leu32Met) variant of RAG1 (P15918)
L32M (p.Leu32Met) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L32M (p.Leu32Met) variant details
- p.Leu32Met
- gnomAD 11-36573398-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available