V433M (p.Val433Met) variant of RAG1 (P15918)
V433M (p.Val433Met) in RAG1 (P15918) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V433M (p.Val433Met) variant details
- p.Val433Met
- rs199474679
- ClinGen CA219794
- ClinVar RCV000059560
- ClinVar RCV003235027
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.76
- MetaLR 0.66
- MetaSVM 0.40
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in OS and T(-)B(-)NK(+) SCID)
- UniProt: Pathogenic (in OS and T(-)B(-)NK(+) SCID)
- Population evidence available
- Structural context available
- Cited in: V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical… (PMID 11133745)
- Cited in: Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. (PMID 19912631)