V6I (p.Val6Ile) variant of RAG2 (P55895)
V6I (p.Val6Ile) in RAG2 (P55895) 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 0.46 / 1. The record also includes experimental measurements and structural context.
V6I (p.Val6Ile) variant details
- p.Val6Ile
- rs1851108946
- ClinGen CA380145263
- ClinVar RCV003782744
- TOPMed rs1851108946
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.08
- MetaLR 0.56
- MetaSVM -0.38
- PolyPhen-2 0.00
- SIFT 0.33
- MutPred 0.43
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.214