G70R (p.Gly70Arg) variant of SCN8A (Q9UQD0)
G70R (p.Gly70Arg) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G70R (p.Gly70Arg) variant details
- p.Gly70Arg
- rs1313776714
- ClinGen CA385228318
- ClinVar RCV000521808
- gnomAD rs1313776714
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.95
- MetaSVM 1.08
- CADD 29.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available