D78Y (p.Asp78Tyr) variant of ADCY5 (Adenylate cyclase type 5)
D78Y (p.Asp78Tyr) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D78Y (p.Asp78Tyr) variant details
- p.Asp78Tyr
- ExAC rs756652189
- gnomAD rs756652189
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.35
- MetaLR 0.41
- MetaSVM -0.24
- CADD 23.20
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available