M829V (p.Met829Val) variant of ATP1A2 (P50993)
M829V (p.Met829Val) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hemiplegic migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
M829V (p.Met829Val) variant details
- p.Met829Val
- rs2101995847
- ClinGen CA343251362
- ClinVar RCV002050721
- Ensembl rs2101995847
- Likely pathogenic
- Familial hemiplegic migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.12
- PolyPhen-2 0.62
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Familial hemiplegic migraine)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)