G20S (p.Gly20Ser) variant of ATP1A2 (P50993)
G20S (p.Gly20Ser) 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 0.45 / 1. The record also includes published literature and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs1558002462
- ClinGen CA343227251
- ClinVar RCV000699400
- Ensembl rs1558002462
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM -0.28
- PolyPhen-2 0.04
- SIFT 0.46
- MutPred 0.21
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)