R34W (p.Arg34Trp) variant of RAG1 (P15918)
R34W (p.Arg34Trp) 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 0.48 / 1. The record also includes population frequency data and structural context.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- rs778391388
- NCI-TCGA Cosmic COSV5502
- ExAC rs778391388
- TOPMed rs778391388
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.56
- MetaLR 0.55
- MetaSVM 0.17
- CADD 24.60
- PolyPhen-2 0.88
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available