M1T (p.Met1Thr) variant of SCN1B (Q07699)
M1T (p.Met1Thr) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Brugada syndrome 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2151745332
- ClinGen CA405327774
- ClinVar RCV001552076
- ClinVar RCV003771691
- Conflicting interpretations
- Brugada syndrome 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.73
- MetaSVM 0.20
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Brugada syndrome 5; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)