W28C (p.Trp28Cys) variant of RAG1 (P15918)
W28C (p.Trp28Cys) 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 0.71 / 1. The record also includes population frequency data and structural context.
W28C (p.Trp28Cys) variant details
- p.Trp28Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.65
- MetaLR 0.72
- MetaSVM 0.46
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available