D80H (p.Asp80His) variant of ADCY5 (Adenylate cyclase type 5)
D80H (p.Asp80His) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
D80H (p.Asp80His) variant details
- p.Asp80His
- rs750872257
- ClinGen CA354358633
- ClinVar RCV003739625
- ExAC rs750872257
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.27
- MetaLR 0.24
- MetaSVM -0.81
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available