Y30C (p.Tyr30Cys) variant of ADA (Adenosine deaminase)
Y30C (p.Tyr30Cys) 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.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- rs759080719
- ClinGen CA9871778
- ClinVar RCV001065351
- ExAC rs759080719
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.66
- CADD 23.30
- PolyPhen-2 0.93
- SIFT 0.04
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)