S114N (p.Ser114Asn) variant of SCN10A (Q9Y5Y9)
S114N (p.Ser114Asn) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar 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 0.63 / 1. The record also includes population frequency data and structural context.
S114N (p.Ser114Asn) variant details
- p.Ser114Asn
- TOPMed rs1317884608
- gnomAD rs1317884608
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.55
- MetaLR 0.94
- MetaSVM 0.88
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available