E36K (p.Glu36Lys) variant of ATP1A2 (P50993)
E36K (p.Glu36Lys) 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 0.55 / 1. The record also includes published literature and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs1651377160
- ClinGen CA343228024
- cosmic curated COSV63403
- ClinVar RCV001222829
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.17
- PolyPhen-2 0.05
- SIFT 0.00
- MutPred 0.52
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)