G33R (p.Gly33Arg) variant of SCN10A (Q9Y5Y9)
G33R (p.Gly33Arg) 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 0.27 / 1. The record also includes population frequency data and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10147
- cosmic curated COSV10611
- Ensembl rs2064318735
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.20
- MetaLR 0.60
- MetaSVM -0.22
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available