D36Y (p.Asp36Tyr) variant of ADCY5 (Adenylate cyclase type 5)
D36Y (p.Asp36Tyr) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D36Y (p.Asp36Tyr) variant details
- p.Asp36Tyr
- ExAC rs779142923
- TOPMed rs779142923
- gnomAD rs779142923
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.30
- MetaLR 0.23
- MetaSVM -0.69
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available