S45T (p.Ser45Thr) variant of ATP1A2 (P50993)
S45T (p.Ser45Thr) 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 0.39 / 1. The record also includes published literature and structural context.
S45T (p.Ser45Thr) variant details
- p.Ser45Thr
- rs1651384906
- ClinGen CA343228494
- ClinVar RCV001351648
- Ensembl rs1651384906
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.07
- MetaLR 0.40
- MetaSVM -0.40
- PolyPhen-2 0.00
- SIFT 0.44
- EVE 0.15
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)