G47W (p.Gly47Trp) variant of ADCY5 (Adenylate cyclase type 5)
G47W (p.Gly47Trp) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
G47W (p.Gly47Trp) variant details
- p.Gly47Trp
- 1000Genomes rs564518568
- TOPMed rs564518568
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.33
- MetaLR 0.21
- MetaSVM -0.69
- CADD 23.50
- PolyPhen-2 0.47
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available