S13* (p.Ser13Ter) variant of KCNA1 (Q09470)
S13* (p.Ser13Ter) in KCNA1 (Q09470) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, published literature, and structural context.
S13* (p.Ser13Ter) variant details
- p.Ser13Ter
- rs1253210703
- ClinGen CA383453664
- ClinVar RCV002044379
- TOPMed rs1253210703
- Uncertain significance
- Stop Gained
- MutPred 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)