R229W (p.Arg229Trp) variant of RAG2 (P55895)
R229W (p.Arg229Trp) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R229W (p.Arg229Trp) variant details
- p.Arg229Trp
- rs765298019
- ClinGen CA5950542
- ClinVar RCV000681587
- ClinVar RCV001042148
- Pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic (in T(-)B(-)NK(+) SCID)
- UniProt: Pathogenic (in T(-)B(-)NK(+) SCID)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available