R51H (p.Arg51His) variant of ATP1A2 (P50993)
R51H (p.Arg51His) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hemiplegic migraine; not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R51H (p.Arg51His) variant details
- p.Arg51His
- rs144106169
- ClinGen CA1194102
- ClinVar RCV000414480
- ClinVar RCV000475103
- Conflicting interpretations
- Familial hemiplegic migraine; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.36
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Familial hemiplegic migraine; not specified; Inborn genetic dise)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)