A2V (p.Ala2Val) variant of ADA (Adenosine deaminase)
A2V (p.Ala2Val) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1319968268
- gnomAD rs1319968268
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available