F33Y (p.Phe33Tyr) variant of RAG1 (P15918)
F33Y (p.Phe33Tyr) in RAG1 (P15918) 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 0.60 / 1. The record also includes structural context.
F33Y (p.Phe33Tyr) variant details
- p.Phe33Tyr
- rs2133292699
- ClinGen CA380145490
- ClinVar RCV001979856
- Ensembl rs2133292699
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.61
- MetaLR 0.56
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.53
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available