R103L (p.Arg103Leu) variant of SCN10A (Q9Y5Y9)
R103L (p.Arg103Leu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R103L (p.Arg103Leu) variant details
- p.Arg103Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.88
- MetaLR 0.96
- MetaSVM 1.10
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available