D51V (p.Asp51Val) variant of RAG1 (P15918)
D51V (p.Asp51Val) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D51V (p.Asp51Val) variant details
- p.Asp51Val
- rs147486240
- ClinGen CA5949912
- ClinVar RCV000269112
- ClinVar RCV000324217
- Uncertain significance
- Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.97
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Histiocytic medullary reticulosis; Severe combined immunodeficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available