L9V (p.Leu9Val) variant of RAG1 (P15918)
L9V (p.Leu9Val) in RAG1 (P15918) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- rs771932715
- NCI-TCGA Cosmic COSV5502
- ExAC rs771932715
- TOPMed rs771932715
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.91
- CADD 6.38
- PolyPhen-2 0.00
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available