S52Y (p.Ser52Tyr) variant of RAG1 (P15918)
S52Y (p.Ser52Tyr) 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 0.30 / 1. The record also includes population frequency data and structural context.
S52Y (p.Ser52Tyr) variant details
- p.Ser52Tyr
- NCI-TCGA Cosmic COSV5502
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.18
- MetaLR 0.32
- MetaSVM -0.62
- CADD 15.80
- PolyPhen-2 0.05
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available