T10N (p.Thr10Asn) variant of SCN5A (Nav1.5)
T10N (p.Thr10Asn) 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 0.54 / 1. The record also includes population frequency data and structural context.
T10N (p.Thr10Asn) variant details
- p.Thr10Asn
- cosmic curated COSV60067
- ExAC rs753443631
- TOPMed rs753443631
- gnomAD rs753443631
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.64
- MetaSVM 0.41
- CADD 23.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available