R229L (p.Arg229Leu) variant of RAG2 (P55895)
R229L (p.Arg229Leu) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.90 / 1. The record also includes population frequency data and structural context.
R229L (p.Arg229Leu) variant details
- p.Arg229Leu
- rs121917894
- ClinGen CA5950541
- ClinVar RCV001998712
- ExAC rs121917894
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.99
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in T(-)B(-)NK(+) SCID)
- UniProt: Pathogenic (in T(-)B(-)NK(+) SCID)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available