G3C (p.Gly3Cys) variant of ADCY5 (Adenylate cyclase type 5)
G3C (p.Gly3Cys) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G3C (p.Gly3Cys) variant details
- p.Gly3Cys
- TOPMed rs1279127415
- gnomAD rs1279127415
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.21
- MetaLR 0.20
- MetaSVM -1.01
- CADD 19.30
- PolyPhen-2 0.19
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available