D58N (p.Asp58Asn) variant of SCN8A (Q9UQD0)
D58N (p.Asp58Asn) in SCN8A (Q9UQD0) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- rs1940955246
- cosmic curated COSV61989
- UniProt VAR 076598
- Ensembl rs1940955246
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.92
- MetaSVM 1.04
- CADD 28.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in DEE13)
- UniProt: Uncertain significance (in DEE13)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and… (PMID 25725044)
- Cited in: De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile… (PMID 22365152)