S71R (p.Ser71Arg) variant of ADCY5 (Adenylate cyclase type 5)
S71R (p.Ser71Arg) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
S71R (p.Ser71Arg) variant details
- p.Ser71Arg
- ExAC rs777714893
- TOPMed rs777714893
- gnomAD rs777714893
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.12
- MetaLR 0.28
- MetaSVM -0.74
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available