R65W (p.Arg65Trp) variant of ATP1A2 (P50993)
R65W (p.Arg65Trp) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemiplegic migraine; not provided; Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R65W (p.Arg65Trp) variant details
- p.Arg65Trp
- rs121918619
- ClinGen CA256653
- cosmic curated COSV63404
- ClinVar RCV000013792
- Uncertain significance
- Familial hemiplegic migraine; not provided; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.66
- CADD 24.40
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Familial hemiplegic migraine; not provided; Migraine, familial h)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial… (PMID 17877748)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)