A64V (p.Ala64Val) variant of RAG1 (P15918)
A64V (p.Ala64Val) 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 0.32 / 1. The record also includes structural context.
A64V (p.Ala64Val) variant details
- p.Ala64Val
- rs1564988004
- ClinGen CA380145847
- ClinVar RCV000686139
- Ensembl rs1564988004
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 0.56
- EVE 0.09
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available