R1238W (p.Arg1238Trp) variant of ADCY5 (Adenylate cyclase type 5)
R1238W (p.Arg1238Trp) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder with hyperkinetic movements and dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R1238W (p.Arg1238Trp) variant details
- p.Arg1238Trp
- rs2108148749
- ClinGen CA354222041
- ClinVar RCV001789715
- UniProt VAR 086542
- Pathogenic
- Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.65
- MetaLR 0.40
- MetaSVM 0.21
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Neurodevelopmental disorder with hyperkinetic movements and dysk)
- EBI: Pathogenic (in DSKOR)
- UniProt: Pathogenic (in DSKOR)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability. (PMID 33704598)
- Cited in: Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus. (PMID 28971144)