C341Y (p.Cys341Tyr) variant of ATP1A2 (P50993)
C341Y (p.Cys341Tyr) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy 98; Migraine, familial hemiplegic, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
C341Y (p.Cys341Tyr) variant details
- p.Cys341Tyr
- rs1057521630
- ClinGen CA343239094
- ClinVar RCV003128284
- ClinVar RCV003147842
- Likely pathogenic
- Developmental and epileptic encephalopathy 98; Migraine, familial hemiplegic, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy 98; Migraine, familia)
- EBI: Likely pathogenic (in DEE98)
- UniProt: Likely pathogenic (in DEE98)
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)