V247M (p.Val247Met) variant of ATP1A3 (P13637)
V247M (p.Val247Met) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dystonia 12; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V247M (p.Val247Met) variant details
- p.Val247Met
- rs782227665
- ClinGen CA9467783
- ClinVar RCV000502583
- ClinVar RCV001857074
- Conflicting interpretations
- Dystonia 12; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 21.90
- PolyPhen-2 0.61
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Dystonia 12; Inborn genetic diseases; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)