V7L (p.Val7Leu) variant of ADCY5 (Adenylate cyclase type 5)
V7L (p.Val7Leu) 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; Dyskinesia with orofacial involvement, autosomal dominant; Dyskine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- rs1945873464
- ClinGen CA354359086
- ClinVar RCV003323120
- ClinVar RCV005399327
- Uncertain significance
- not provided; Dyskinesia with orofacial involvement, autosomal dominant; Dyskine
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.27
- MetaLR 0.29
- MetaSVM -0.54
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Dyskinesia with orofacial involvement, autosomal d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)