P979L (p.Pro979Leu) variant of ATP1A2 (P50993)
P979L (p.Pro979Leu) 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; not provided; Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
P979L (p.Pro979Leu) variant details
- p.Pro979Leu
- rs121918615
- ClinGen CA256644
- ClinVar RCV000013788
- ClinVar RCV000529838
- Pathogenic
- Familial hemiplegic migraine; not provided; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.95
- MetaLR 0.61
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Familial hemiplegic migraine; not provided; Migraine, familial h)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. (PMID 15159495)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)