S40F (p.Ser40Phe) variant of RAG2 (P55895)
S40F (p.Ser40Phe) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes experimental measurements and structural context.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- rs762460908
- ClinGen CA380144555
- ClinVar RCV003045435
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 0.31
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.81
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.85