A37V (p.Ala37Val) variant of ADA (Adenosine deaminase)
A37V (p.Ala37Val) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- rs151336936
- ClinGen CA9871756
- ClinVar RCV000608642
- ClinVar RCV000644515
- Likely benign
- not specified; Severe combined immunodeficiency, autosomal recessive, T cell-neg
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.24
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Likely benign (not specified; Severe combined immunodeficiency, autosomal reces)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)