S4C (p.Ser4Cys) variant of ADCY5 (Adenylate cyclase type 5)
S4C (p.Ser4Cys) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- TOPMed rs1945873673
- gnomAD rs1945873673
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.39
- MetaLR 0.43
- MetaSVM -0.02
- CADD 27.30
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available