I630L (p.Ile630Leu) variant of ATP1A2 (P50993)
I630L (p.Ile630Leu) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I630L (p.Ile630Leu) variant details
- p.Ile630Leu
- rs1382260409
- ClinGen CA343246817
- ClinVar RCV001290423
- TOPMed rs1382260409
- Likely pathogenic
- Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.81
- CADD 26.90
- ClinVar: Likely pathogenic (Migraine, familial hemiplegic, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)