G58A (p.Gly58Ala) variant of ADCY5 (Adenylate cyclase type 5)
G58A (p.Gly58Ala) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G58A (p.Gly58Ala) variant details
- p.Gly58Ala
- ExAC rs769256576
- gnomAD rs769256576
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.93
- CADD 9.59
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available