C41W (p.Cys41Trp) variant of RAG2 (P55895)
C41W (p.Cys41Trp) 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 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
C41W (p.Cys41Trp) variant details
- p.Cys41Trp
- rs121917895
- ClinGen CA122857
- ClinVar RCV000014012
- ClinVar RCV000681574
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.771
- Cited in: Partial V(D)J recombination activity leads to Omenn syndrome. (PMID 9630231)