G52D (p.Gly52Asp) variant of ADCY5 (Adenylate cyclase type 5)
G52D (p.Gly52Asp) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- gnomAD rs1380755130
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.16
- MetaLR 0.23
- MetaSVM -0.79
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available