A70P (p.Ala70Pro) variant of ADCY5 (Adenylate cyclase type 5)
A70P (p.Ala70Pro) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A70P (p.Ala70Pro) variant details
- p.Ala70Pro
- rs559947047
- ClinGen CA2577727
- ClinVar RCV001787494
- 1000Genomes rs559947047
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.24
- MetaLR 0.25
- MetaSVM -0.74
- CADD 18.10
- PolyPhen-2 0.04
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.01)
- Structural context available