P42L (p.Pro42Leu) variant of RAG2 (P55895)
P42L (p.Pro42Leu) 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 0.87 / 1. The record also includes experimental measurements and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs2133316235
- ClinGen CA380144524
- ClinVar RCV001367448
- Ensembl rs2133316235
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 0.74
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- 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 -0.626