S6R (p.Ser6Arg) variant of ADCY5 (Adenylate cyclase type 5)
S6R (p.Ser6Arg) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- TOPMed rs1474680093
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.27
- MetaLR 0.34
- MetaSVM -0.48
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available