E34V (p.Glu34Val) variant of ADCY5 (Adenylate cyclase type 5)
E34V (p.Glu34Val) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E34V (p.Glu34Val) variant details
- p.Glu34Val
- TOPMed rs1332675880
- gnomAD rs1332675880
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.39
- MetaLR 0.34
- MetaSVM -0.42
- CADD 19.80
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available