G20D (p.Gly20Asp) variant of SCN1B (Q07699)
G20D (p.Gly20Asp) in SCN1B (Q07699) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- NCI-TCGA Cosmic COSV5289
- cosmic curated COSV52895
- gnomAD rs1323590530
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.74
- ESM-1b 0.00
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 0.91
- CADD 27.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available