R259H (p.Arg259His) variant of ATP1A3 (P13637)
R259H (p.Arg259His) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Alternating hemiplegia of childhood 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R259H (p.Arg259His) variant details
- p.Arg259His
- rs1599722721
- ClinGen CA406053185
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57487
- Uncertain significance
- not provided; Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Alternating hemiplegia of childhood 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)