G85R (p.Gly85Arg) variant of ADCY5 (Adenylate cyclase type 5)
G85R (p.Gly85Arg) 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 0.33 / 1. The record also includes population frequency data and structural context.
G85R (p.Gly85Arg) variant details
- p.Gly85Arg
- rs764919392
- ClinGen CA354358599
- ClinVar RCV003328804
- ExAC rs764919392
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.25
- MetaLR 0.18
- MetaSVM -0.83
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available