R108G (p.Arg108Gly) variant of SCN10A (Q9Y5Y9)
R108G (p.Arg108Gly) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R108G (p.Arg108Gly) variant details
- p.Arg108Gly
- TOPMed rs1131691525
- gnomAD rs1131691525
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.44
- MetaLR 0.75
- MetaSVM 0.10
- CADD 16.50
- PolyPhen-2 0.13
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available