R38C (p.Arg38Cys) variant of ADCY5 (Adenylate cyclase type 5)
R38C (p.Arg38Cys) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- TOPMed rs1945871038
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.28
- MetaLR 0.24
- MetaSVM -0.61
- CADD 24.40
- PolyPhen-2 0.45
- SIFT 0.08
- Population evidence available
- Structural context available