S87N (p.Ser87Asn) variant of SCN10A (Q9Y5Y9)
S87N (p.Ser87Asn) 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 0.42 / 1. The record also includes population frequency data and structural context.
S87N (p.Ser87Asn) variant details
- p.Ser87Asn
- rs766047928
- ClinGen CA2321273
- ClinVar RCV002437170
- ExAC rs766047928
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.23
- MetaLR 0.74
- MetaSVM -0.16
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.35
- 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