I274N (p.Ile274Asn) variant of ATP1A3 (P13637)
I274N (p.Ile274Asn) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
I274N (p.Ile274Asn) variant details
- p.Ile274Asn
- rs80356532
- ClinGen CA346000
- ClinVar RCV000148305
- ClinVar RCV005089717
- Pathogenic
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.99
- MetaLR 0.88
- MetaSVM 1.06
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Dystonia 12)
- EBI: Pathogenic (in AHC2)
- UniProt: Pathogenic (in AHC2)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (PMID 22842232)
- Cited in: Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing… (PMID 22850527)