D36H (p.Asp36His) variant of ADCY5 (Adenylate cyclase type 5)
D36H (p.Asp36His) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D36H (p.Asp36His) variant details
- p.Asp36His
- ExAC rs779142923
- TOPMed rs779142923
- gnomAD rs779142923
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.23
- MetaLR 0.23
- MetaSVM -0.67
- CADD 22.70
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available