R51C (p.Arg51Cys) variant of ADCY5 (Adenylate cyclase type 5)
R51C (p.Arg51Cys) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- TOPMed rs975210243
- gnomAD rs975210243
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.32
- MetaLR 0.31
- MetaSVM -0.62
- CADD 24.60
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available