P786L (p.Pro786Leu) variant of ATP1A2 (P50993)
P786L (p.Pro786Leu) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
P786L (p.Pro786Leu) variant details
- p.Pro786Leu
- rs1209724722
- ClinGen CA343250420
- ClinVar RCV001934455
- gnomAD rs1209724722
- Pathogenic
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.66
- ClinVar: Pathogenic (Familial hemiplegic migraine)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)