T28A (p.Thr28Ala) variant of SCN1B (Q07699)
T28A (p.Thr28Ala) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 13; Generalized epilepsy with febrile seizures pl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T28A (p.Thr28Ala) variant details
- p.Thr28Ala
- rs786205838
- ClinGen CA302192
- ClinVar RCV000171060
- ClinVar RCV001350746
- Uncertain significance
- Atrial fibrillation, familial, 13; Generalized epilepsy with febrile seizures pl
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.79
- ESM-1b 0.76
- AlphaMissense 0.80
- MetaLR 0.83
- MetaSVM 0.60
- CADD 27.70
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 13; Generalized epilepsy with feb)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)