S37C (p.Ser37Cys) variant of ADCY5 (Adenylate cyclase type 5)
S37C (p.Ser37Cys) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S37C (p.Ser37Cys) variant details
- p.Ser37Cys
- TOPMed rs1945871079
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.41
- MetaLR 0.31
- MetaSVM -0.28
- CADD 23.30
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.7e-05)
- Structural context available