L57P (p.Leu57Pro) variant of ATP1A2 (P50993)
L57P (p.Leu57Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs748802547
- ClinGen CA1194106
- ClinVar RCV002611592
- ExAC rs748802547
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.61
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.42
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)