R229P (p.Arg229Pro) variant of RAG2 (P55895)
R229P (p.Arg229Pro) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.86 / 1. The record also includes structural context.
R229P (p.Arg229Pro) variant details
- p.Arg229Pro
- rs121917894
- ClinGen CA380142321
- ClinVar RCV001331314
- ClinVar RCV003227962
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in T(-)B(-)NK(+) SCID)
- UniProt: Pathogenic (in T(-)B(-)NK(+) SCID)
- Structural context available