D8H (p.Asp8His) variant of ADA (Adenosine deaminase)
D8H (p.Asp8His) 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 0.40 / 1. The record also includes population frequency data and structural context.
D8H (p.Asp8His) variant details
- p.Asp8His
- 1000Genomes rs73598374
- ESP rs73598374
- ExAC rs73598374
- TOPMed rs73598374
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.37
- CADD 24.20
- PolyPhen-2 0.69
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available