Q119R (p.Gln119Arg) variant of ADA (Adenosine deaminase)
Q119R (p.Gln119Arg) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q119R (p.Gln119Arg) variant details
- p.Gln119Arg
- TOPMed rs2065382943
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.74
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available