R149W (p.Arg149Trp) variant of ADA (Adenosine deaminase)
R149W (p.Arg149Trp) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R149W (p.Arg149Trp) variant details
- p.Arg149Trp
- rs121908733
- ClinGen CA266014
- cosmic curated COSV10468
- ClinVar RCV000059103
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.95
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)