G45E (p.Gly45Glu) variant of ADA (Adenosine deaminase)
G45E (p.Gly45Glu) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G45E (p.Gly45Glu) variant details
- p.Gly45Glu
- TOPMed rs1363563144
- gnomAD rs1363563144
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.34
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available