E113K (p.Glu113Lys) variant of ADA (Adenosine deaminase)
E113K (p.Glu113Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
E113K (p.Glu113Lys) variant details
- p.Glu113Lys
- TOPMed rs1275500780
- gnomAD rs1275500780
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.28
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.65
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available