R156H (p.Arg156His) variant of ADA (Adenosine deaminase)
R156H (p.Arg156His) 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.
R156H (p.Arg156His) variant details
- p.Arg156His
- rs121908722
- ClinGen CA115299
- ClinVar RCV000002061
- ClinVar RCV000059106
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.94
- CADD 28.90
- PolyPhen-2 0.83
- SIFT 0.02
- 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: Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. (PMID 8673127)