R101L (p.Arg101Leu) variant of ADA (Adenosine deaminase)
R101L (p.Arg101Leu) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R101L (p.Arg101Leu) variant details
- p.Arg101Leu
- rs121908714
- ClinGen CA266003
- ClinVar RCV000059098
- ClinVar RCV006456669
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 24.70
- 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 Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed… (PMID 8227344)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)