N3S (p.Asn3Ser) variant of SCN5A (Nav1.5)
N3S (p.Asn3Ser) in SCN5A (Nav1.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- rs777042523
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60066
- ExAC rs777042523
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.24
- MetaSVM -0.83
- CADD 19.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available