G74V (p.Gly74Val) variant of ADA (Adenosine deaminase)
G74V (p.Gly74Val) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G74V (p.Gly74Val) variant details
- p.Gly74Val
- rs199422328
- ClinGen CA252016
- ClinVar RCV000002054
- ClinVar RCV006263612
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.91
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency disease; Severe combined immuno)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available
- Cited in: Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. (PMID 8614422)
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)