V96A (p.Val96Ala) variant of ADA (Adenosine deaminase)
V96A (p.Val96Ala) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data and structural context.
V96A (p.Val96Ala) variant details
- p.Val96Ala
- ExAC rs777666040
- TOPMed rs777666040
- gnomAD rs777666040
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.41
- CADD 12.30
- PolyPhen-2 0.10
- SIFT 0.47
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available