R7C (p.Arg7Cys) variant of ATP1A2 (P50993)
R7C (p.Arg7Cys) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- rs761260548
- ClinGen CA1194073
- ClinVar RCV000716397
- ClinVar RCV002312780
- Uncertain significance
- Inborn genetic diseases; Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.49
- AlphaMissense 0.15
- MetaLR 0.54
- MetaSVM -0.13
- CADD 24.30
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)