A17G (p.Ala17Gly) variant of SCN1B (Q07699)
A17G (p.Ala17Gly) 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 0.41 / 1. The record also includes population frequency data and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- rs2064220382
- ClinGen CA405327887
- ClinVar RCV004093860
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.83
- MetaSVM 0.35
- CADD 23.20
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available