R593L (p.Arg593Leu) variant of ATP1A2 (P50993)
R593L (p.Arg593Leu) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R593L (p.Arg593Leu) variant details
- p.Arg593Leu
- rs1553245178
- ClinGen CA343244420
- ClinVar RCV000802140
- Ensembl rs1553245178
- Pathogenic
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.95
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial hemiplegic migraine)
- EBI: Pathogenic (in DEE98)
- UniProt: Pathogenic (in DEE98)
- Population evidence available
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)