V129M (p.Val129Met) variant of ADA (Adenosine deaminase)
V129M (p.Val129Met) 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, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
V129M (p.Val129Met) variant details
- p.Val129Met
- rs121908731
- ClinGen CA266005
- ClinVar RCV000059099
- UniProt VAR 002220
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.94
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/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: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)
- Cited in: Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to… (PMID 1284479)