R51H (p.Arg51His) variant of ADCY5 (Adenylate cyclase type 5)
R51H (p.Arg51His) 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.
R51H (p.Arg51His) variant details
- p.Arg51His
- TOPMed rs1301581448
- gnomAD rs1301581448
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.33
- MetaLR 0.29
- MetaSVM -0.61
- CADD 22.80
- PolyPhen-2 0.38
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available