C75Y (p.Cys75Tyr) variant of ADA (Adenosine deaminase)
C75Y (p.Cys75Tyr) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Severe combined immunodeficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C75Y (p.Cys75Tyr) variant details
- p.Cys75Tyr
- rs2065385037
- ClinGen CA409121556
- ClinVar RCV001070163
- ClinVar RCV006302260
- Uncertain significance
- Inborn genetic diseases; Severe combined immunodeficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.39
- CADD 12.80
- PolyPhen-2 0.20
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Severe combined immunodeficiency, autos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)