R548C (p.Arg548Cys) variant of ATP1A2 (P50993)
R548C (p.Arg548Cys) 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 0.66 / 1. The record also includes published literature and structural context.
R548C (p.Arg548Cys) variant details
- p.Arg548Cys
- rs1651731153
- ClinGen CA343243773
- NCI-TCGA Cosmic COSV6340
- cosmic curated COSV63403
- Pathogenic
- Familial hemiplegic migraine; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 1.00
- MetaLR 0.55
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (Familial hemiplegic migraine; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)