V65A (p.Val65Ala) variant of RAG1 (P15918)
V65A (p.Val65Ala) 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 0.15 / 1. The record also includes population frequency data and structural context.
V65A (p.Val65Ala) variant details
- p.Val65Ala
- rs143654819
- ClinGen CA5949922
- ClinVar RCV001359939
- ESP rs143654819
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -0.94
- CADD 8.62
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available