V96M (p.Val96Met) variant of ADA (Adenosine deaminase)
V96M (p.Val96Met) in ADA (Adenosine deaminase) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V96M (p.Val96Met) variant details
- p.Val96Met
- rs1316605272
- ClinGen CA409121417
- ClinVar RCV002043325
- TOPMed rs1316605272
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.61
- CADD 23.20
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)