R254H (p.Arg254His) variant of ATP1A3 (P13637)
R254H (p.Arg254His) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R254H (p.Arg254His) variant details
- p.Arg254His
- rs1315342682
- ClinGen CA406053219
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)