R108L (p.Arg108Leu) variant of SCN10A (Q9Y5Y9)
R108L (p.Arg108Leu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R108L (p.Arg108Leu) variant details
- p.Arg108Leu
- rs141278729
- ClinGen CA352161133
- ClinVar RCV003387213
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.43
- MetaLR 0.75
- MetaSVM 0.23
- CADD 17.50
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available