G615R (p.Gly615Arg) variant of ATP1A2 (P50993)
G615R (p.Gly615Arg) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hemiplegic migraine; Alternating hemiplegia of childhood 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G615R (p.Gly615Arg) variant details
- p.Gly615Arg
- rs770053423
- ClinGen CA1194599
- ClinVar RCV001331358
- ClinVar RCV002546466
- Pathogenic/Likely pathogenic
- Familial hemiplegic migraine; Alternating hemiplegia of childhood 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hemiplegic migraine; Alternating hemiplegia of childhoo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)