R383L (p.Arg383Leu) variant of ATP1A2 (P50993)
R383L (p.Arg383Leu) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R383L (p.Arg383Leu) variant details
- p.Arg383Leu
- rs765909830
- ClinGen CA343239562
- ClinVar RCV002455203
- ClinVar RCV005058318
- Uncertain significance
- Familial hemiplegic migraine; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.82
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (Familial hemiplegic migraine; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)