E113Q (p.Glu113Gln) variant of ADA (Adenosine deaminase)
E113Q (p.Glu113Gln) 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 0.24 / 1. The record also includes population frequency data and structural context.
E113Q (p.Glu113Gln) variant details
- p.Glu113Gln
- TOPMed rs1275500780
- gnomAD rs1275500780
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.26
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.25
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available