A51T (p.Ala51Thr) variant of SCN1B (Q07699)
A51T (p.Ala51Thr) in SCN1B (Q07699) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs748788661
- ClinGen CA9371965
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52896
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.91
- MetaLR 0.08
- MetaSVM -1.07
- CADD 28.90
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available