R7H (p.Arg7His) variant of ATP1A2 (P50993)
R7H (p.Arg7His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- rs764755889
- ClinGen CA1194074
- ClinVar RCV001968452
- ClinVar RCV003238886
- Uncertain significance
- Familial hemiplegic migraine; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.33
- AlphaMissense 0.28
- MetaLR 0.60
- MetaSVM 0.30
- CADD 22.40
- PolyPhen-2 0.53
- ClinVar: Uncertain significance (Familial hemiplegic migraine; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)