E99D (p.Glu99Asp) variant of ADA (Adenosine deaminase)
E99D (p.Glu99Asp) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E99D (p.Glu99Asp) variant details
- p.Glu99Asp
- TOPMed rs1437613842
- gnomAD rs1437613842
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.89
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available