G47R (p.Gly47Arg) variant of ADCY5 (Adenylate cyclase type 5)
G47R (p.Gly47Arg) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- 1000Genomes rs564518568
- TOPMed rs564518568
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.16
- MetaLR 0.13
- MetaSVM -0.92
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available