H44Y (p.His44Tyr) variant of ADCY5 (Adenylate cyclase type 5)
H44Y (p.His44Tyr) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Dyskinesia with orofacial involvement, autosomal recessive; Neurodevelopmental d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- rs189868197
- ClinGen CA2577743
- ClinVar RCV000870961
- ClinVar RCV002507514
- Benign/Likely benign
- Dyskinesia with orofacial involvement, autosomal recessive; Neurodevelopmental d
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.00
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (Dyskinesia with orofacial involvement, autosomal recessive; Neur)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAI population (allele frequency 0.062)
- Structural context available
- Cited in: ADCY5-Related Movement Disorder. (PMID 25521004)