K175N (p.Lys175Asn) variant of SCN5A (Nav1.5)
K175N (p.Lys175Asn) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
K175N (p.Lys175Asn) variant details
- p.Lys175Asn
- rs199473063
- ClinGen CA019045
- cosmic curated COSV10590
- ClinVar RCV000058757
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Brugada Syndrome. (PMID 20301690)