L20R (p.Leu20Arg) variant of SCN9A (Nav1.7)
L20R (p.Leu20Arg) in SCN9A (Nav1.7) 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 0.72 / 1. The record also includes population frequency data and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- rs757627939
- ClinGen CA1944897
- ClinVar RCV002261697
- ExAC rs757627939
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- MetaLR 0.97
- MetaSVM 1.08
- CADD 27.40
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available