G6R (p.Gly6Arg) variant of SCN10A (Q9Y5Y9)
G6R (p.Gly6Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs1486527017
- ClinGen CA352163541
- ClinVar RCV003224043
- ClinVar RCV004985315
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.32
- MetaLR 0.80
- MetaSVM 0.24
- CADD 23.20
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available