G48S (p.Gly48Ser) variant of ADCY5 (Adenylate cyclase type 5)
G48S (p.Gly48Ser) in ADCY5 (Adenylate cyclase type 5) is a missense change. 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.
G48S (p.Gly48Ser) variant details
- p.Gly48Ser
- ExAC rs750822850
- gnomAD rs750822850
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.24
- MetaLR 0.14
- MetaSVM -0.92
- CADD 18.50
- PolyPhen-2 0.06
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available