W111R (p.Trp111Arg) variant of SCN10A (Q9Y5Y9)
W111R (p.Trp111Arg) 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 0.60 / 1. The record also includes population frequency data and structural context.
W111R (p.Trp111Arg) variant details
- p.Trp111Arg
- rs764007884
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10147
- ExAC rs764007884
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.62
- MetaLR 0.87
- MetaSVM 1.03
- CADD 27.10
- PolyPhen-2 0.71
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available