E121G (p.Glu121Gly) variant of ADA (Adenosine deaminase)
E121G (p.Glu121Gly) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E121G (p.Glu121Gly) variant details
- p.Glu121Gly
- ExAC rs748035221
- gnomAD rs748035221
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.52
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available