L9W (p.Leu9Trp) variant of RAG1 (P15918)
L9W (p.Leu9Trp) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L9W (p.Leu9Trp) variant details
- p.Leu9Trp
- gnomAD 11-36573330-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.27
- CADD 23.00
- PolyPhen-2 0.53
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available