G59R (p.Gly59Arg) variant of ADCY5 (Adenylate cyclase type 5)
G59R (p.Gly59Arg) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G59R (p.Gly59Arg) variant details
- p.Gly59Arg
- rs1184128181
- ClinGen CA354358768
- ClinVar RCV002246943
- 1000Genomes rs1184128181
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.16
- MetaLR 0.18
- MetaSVM -0.84
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available