G122R (p.Gly122Arg) variant of ADA (Adenosine deaminase)
G122R (p.Gly122Arg) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G122R (p.Gly122Arg) variant details
- p.Gly122Arg
- ExAC rs767782363
- TOPMed rs767782363
- gnomAD rs767782363
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.80
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available