G47E (p.Gly47Glu) variant of ADCY5 (Adenylate cyclase type 5)
G47E (p.Gly47Glu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- gnomAD rs1945870281
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.16
- MetaLR 0.15
- MetaSVM -0.84
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available