C75W (p.Cys75Trp) variant of ADA (Adenosine deaminase)
C75W (p.Cys75Trp) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
C75W (p.Cys75Trp) variant details
- p.Cys75Trp
- rs2065384997
- ClinGen CA409121552
- ClinVar RCV001980820
- gnomAD rs2065384997
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.68
- CADD 26.40
- PolyPhen-2 0.72
- SIFT 0.01
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)