R98C (p.Arg98Cys) variant of ADCY5 (Adenylate cyclase type 5)
R98C (p.Arg98Cys) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R98C (p.Arg98Cys) variant details
- p.Arg98Cys
- ExAC rs749408400
- TOPMed rs749408400
- gnomAD rs749408400
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.63
- MetaLR 0.36
- MetaSVM -0.28
- CADD 28.50
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.9e-05)
- Structural context available