S75R (p.Ser75Arg) variant of ADCY5 (Adenylate cyclase type 5)
S75R (p.Ser75Arg) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S75R (p.Ser75Arg) variant details
- p.Ser75Arg
- TOPMed rs1945867505
- gnomAD rs1945867505
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.13
- MetaLR 0.20
- MetaSVM -0.95
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available