N11S (p.Asn11Ser) variant of SCN10A (Q9Y5Y9)
N11S (p.Asn11Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- rs537640883
- ClinGen CA2321319
- ClinVar RCV003306051
- 1000Genomes rs537640883
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.26
- MetaLR 0.60
- MetaSVM -0.50
- CADD 12.40
- PolyPhen-2 0.05
- SIFT 0.21
- 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