A102S (p.Ala102Ser) variant of ADCY5 (Adenylate cyclase type 5)
A102S (p.Ala102Ser) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A102S (p.Ala102Ser) variant details
- p.Ala102Ser
- 1000Genomes rs548282891
- ExAC rs548282891
- TOPMed rs548282891
- gnomAD rs548282891
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.72
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available