D8Y (p.Asp8Tyr) variant of ADA (Adenosine deaminase)
D8Y (p.Asp8Tyr) in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D8Y (p.Asp8Tyr) variant details
- p.Asp8Tyr
- 1000Genomes rs73598374
- ESP rs73598374
- ExAC rs73598374
- TOPMed rs73598374
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.57
- CADD 23.90
- PolyPhen-2 0.58
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available