A329V (p.Ala329Val) variant of ADA (Adenosine deaminase)
A329V (p.Ala329Val) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A329V (p.Ala329Val) variant details
- p.Ala329Val
- rs121908715
- ClinGen CA252004
- ClinVar RCV000002036
- ClinVar RCV000373062
- Pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.93
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the African/African-American population (allele frequency 0.00065)
- Structural context available
- Cited in: Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their… (PMID 1346349)
- Cited in: A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution. (PMID 2773932)