R51L (p.Arg51Leu) variant of ATP1A2 (P50993)
R51L (p.Arg51Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- rs144106169
- ClinGen CA313322
- ClinVar RCV000186803
- ClinVar RCV001045545
- Uncertain significance
- Familial hemiplegic migraine; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.49
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.14
- ClinVar: Uncertain significance (Familial hemiplegic migraine; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)