H15D (p.His15Asp) variant of ADA (Adenosine deaminase)
H15D (p.His15Asp) 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 not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
H15D (p.His15Asp) variant details
- p.His15Asp
- rs121908725
- ClinGen CA266012
- ClinVar RCV000059102
- ClinVar RCV000429669
- Pathogenic/Likely pathogenic
- not provided; Severe combined immunodeficiency, autosomal recessive, T cell-nega
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.96
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe combined immunodeficiency, autosomal recess)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. (PMID 7599635)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)