S40Y (p.Ser40Tyr) variant of RAG2 (P55895)
S40Y (p.Ser40Tyr) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S40Y (p.Ser40Tyr) variant details
- p.Ser40Tyr
- rs762460908
- ClinGen CA5950623
- ClinVar RCV001874700
- ExAC rs762460908
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.87
- AlphaMissense 0.31
- MetaLR 0.89
- MetaSVM 0.99
- CADD 26.60
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.85