G48D (p.Gly48Asp) variant of ADCY5 (Adenylate cyclase type 5)
G48D (p.Gly48Asp) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- TOPMed rs1310429137
- gnomAD rs1310429137
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.32
- MetaLR 0.16
- MetaSVM -0.90
- CADD 16.10
- PolyPhen-2 0.21
- SIFT 0.02
- Population evidence available
- Structural context available