D109E (p.Asp109Glu) variant of ADCY5 (Adenylate cyclase type 5)
D109E (p.Asp109Glu) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D109E (p.Asp109Glu) variant details
- p.Asp109Glu
- rs868724293
- ClinGen CA82636265
- ClinVar RCV003388806
- gnomAD rs868724293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.09
- MetaLR 0.10
- MetaSVM -0.97
- CADD 9.48
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)