I75S (p.Ile75Ser) variant of SCN10A (Nav1.8)
I75S (p.Ile75Ser) in SCN10A (Nav1.8) 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 0.55 / 1. The record also includes population frequency data and structural context.
I75S (p.Ile75Ser) variant details
- p.Ile75Ser
- TOPMed rs1200209497
- gnomAD rs1200209497
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.43
- MetaLR 0.78
- MetaSVM 0.95
- CADD 24.10
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available