D66Y (p.Asp66Tyr) variant of ADA (Adenosine deaminase)
D66Y (p.Asp66Tyr) in ADA (Adenosine deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D66Y (p.Asp66Tyr) variant details
- p.Asp66Tyr
- Ensembl rs2065408643
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.49
- CADD 18.40
- PolyPhen-2 0.59
- SIFT 0.02
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available