V35M (p.Val35Met) variant of RAG1 (P15918)
V35M (p.Val35Met) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.53 / 1. The record also includes population frequency data and structural context.
V35M (p.Val35Met) variant details
- p.Val35Met
- rs1164702188
- ClinGen CA380145508
- ClinVar RCV003800206
- TOPMed rs1164702188
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.37
- MetaLR 0.53
- MetaSVM 0.12
- CADD 24.90
- PolyPhen-2 0.70
- SIFT 0.02
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available