K23E (p.Lys23Glu) variant of ATP1A2 (P50993)
K23E (p.Lys23Glu) 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 0.48 / 1. The record also includes published literature and structural context.
K23E (p.Lys23Glu) variant details
- p.Lys23Glu
- rs1651376133
- ClinGen CA343227408
- ClinVar RCV001070676
- Ensembl rs1651376133
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.17
- MetaLR 0.55
- MetaSVM 0.01
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.27
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)