V129L (p.Val129Leu) variant of ADA (Adenosine deaminase)
V129L (p.Val129Leu) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
V129L (p.Val129Leu) variant details
- p.Val129Leu
- rs121908731
- ClinGen CA315441606
- ClinVar RCV001988936
- TOPMed rs121908731
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.93
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Population evidence available
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)