R937H (p.Arg937His) variant of ATP1A2 (P50993)
R937H (p.Arg937His) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; Familial hemiplegic migraine; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R937H (p.Arg937His) variant details
- p.Arg937His
- rs1553245943
- ClinGen CA343252811
- ClinVar RCV000623208
- ClinVar RCV000716697
- Likely pathogenic
- Inborn genetic diseases; Familial hemiplegic migraine; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Inborn genetic diseases; Familial hemiplegic migraine; not provi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- 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)