T811A (p.Thr811Ala) variant of ATP1A2 (P50993)
T811A (p.Thr811Ala) 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 0.77 / 1. The record also includes published literature and structural context.
T811A (p.Thr811Ala) variant details
- p.Thr811Ala
- rs1651923523
- ClinGen CA343250909
- ClinVar RCV003066342
- Uncertain significance
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.96
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 0.10
- SIFT 0.01
- EVE 0.54
- ClinVar: Uncertain significance (Familial hemiplegic migraine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)