G122A (p.Gly122Ala) variant of ADA (Adenosine deaminase)
G122A (p.Gly122Ala) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G122A (p.Gly122Ala) variant details
- p.Gly122Ala
- cosmic curated COSV10530
- TOPMed rs2065375912
- gnomAD rs2065375912
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.80
- CADD 25.30
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available