G48V (p.Gly48Val) variant of ADCY5 (Adenylate cyclase type 5)
G48V (p.Gly48Val) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G48V (p.Gly48Val) variant details
- p.Gly48Val
- TOPMed rs1310429137
- gnomAD rs1310429137
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.28
- MetaLR 0.22
- MetaSVM -0.65
- CADD 19.10
- PolyPhen-2 0.08
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available