D36N (p.Asp36Asn) variant of ADCY5 (Adenylate cyclase type 5)
D36N (p.Asp36Asn) 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 Dyskinesia with orofacial involvement, autosomal dominant. 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.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- ExAC rs779142923
- TOPMed rs779142923
- gnomAD rs779142923
- Uncertain significance
- Dyskinesia with orofacial involvement, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.27
- MetaLR 0.20
- MetaSVM -0.79
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Dyskinesia with orofacial involvement, autosomal dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available