D66N (p.Asp66Asn) variant of SCN5A (Nav1.5)
D66N (p.Asp66Asn) in SCN5A (Nav1.5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D66N (p.Asp66Asn) variant details
- p.Asp66Asn
- rs1429845416
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60068
- gnomAD rs1429845416
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.84
- MetaSVM 0.72
- CADD 19.91
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available