T62S (p.Thr62Ser) variant of ATP1A2 (P50993)
T62S (p.Thr62Ser) 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 0.78 / 1. The record also includes published literature and structural context.
T62S (p.Thr62Ser) variant details
- p.Thr62Ser
- rs1651474954
- ClinGen CA343230302
- ClinVar RCV002979647
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.72
- MetaLR 0.78
- MetaSVM 0.72
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)