R217H (p.Arg217His) variant of ATP1A3 (P13637)
R217H (p.Arg217His) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alternating hemiplegia of childhood 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R217H (p.Arg217His) variant details
- p.Arg217His
- rs1555865039
- ClinGen CA406054104
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57487
- Uncertain significance
- Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Alternating hemiplegia of childhood 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)