W117R (p.Trp117Arg) variant of ADA (Adenosine deaminase)
W117R (p.Trp117Arg) 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 0.72 / 1. The record also includes population frequency data and structural context.
W117R (p.Trp117Arg) variant details
- p.Trp117Arg
- ExAC rs771162170
- TOPMed rs771162170
- gnomAD rs771162170
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.81
- CADD 24.00
- PolyPhen-2 0.44
- SIFT 0.06
- 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 0.00013)
- Structural context available