G3S (p.Gly3Ser) variant of ADCY5 (Adenylate cyclase type 5)
G3S (p.Gly3Ser) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- rs1279127415
- ClinGen CA354359114
- ClinVar RCV002676253
- TOPMed rs1279127415
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.26
- MetaLR 0.14
- MetaSVM -1.00
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.8e-05)
- Structural context available