P81L (p.Pro81Leu) variant of ADCY5 (Adenylate cyclase type 5)
P81L (p.Pro81Leu) 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 Dyskinesia with orofacial involvement, autosomal dominant; Dyskinesia with orofa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- rs77439349
- ClinGen CA2577716
- ClinVar RCV001513381
- ClinVar RCV002295342
- Conflicting interpretations
- Dyskinesia with orofacial involvement, autosomal dominant; Dyskinesia with orofa
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.14
- MetaLR 0.21
- MetaSVM -0.83
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Dyskinesia with orofacial involvement, autosomal dominant; Dyski)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MIAO population (allele frequency 0.1)
- Structural context available
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)