D78G (p.Asp78Gly) variant of ADCY5 (Adenylate cyclase type 5)
D78G (p.Asp78Gly) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
D78G (p.Asp78Gly) variant details
- p.Asp78Gly
- rs1477827448
- ClinGen CA354358644
- ClinVar RCV002621404
- TOPMed rs1477827448
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.23
- MetaLR 0.30
- MetaSVM -0.72
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 5.3e-05)
- Structural context available