A73V (p.Ala73Val) variant of ADA (Adenosine deaminase)
A73V (p.Ala73Val) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Severe combined immunodeficiency, autosomal recessive, T cell-neg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- rs747528590
- ClinGen CA9871737
- cosmic curated COSV10971
- ClinVar RCV003095658
- Uncertain significance
- not specified; Severe combined immunodeficiency, autosomal recessive, T cell-neg
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.54
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not specified; Severe combined immunodeficiency, autosomal reces)
- 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)