V628M (p.Val628Met) variant of ATP1A2 (P50993)
V628M (p.Val628Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V628M (p.Val628Met) variant details
- p.Val628Met
- rs1553245659
- ClinGen CA343246767
- NCI-TCGA Cosmic COSV6340
- cosmic curated COSV63402
- Pathogenic
- Familial hemiplegic migraine; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.91
- CADD 28.80
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Pathogenic (Familial hemiplegic migraine; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)