E93Q (p.Glu93Gln) variant of ADA (Adenosine deaminase)
E93Q (p.Glu93Gln) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E93Q (p.Glu93Gln) variant details
- p.Glu93Gln
- TOPMed rs2065384379
- gnomAD rs2065384379
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.44
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available