D45N (p.Asp45Asn) variant of SCN1A (Nav1.1)
D45N (p.Asp45Asn) in SCN1A (Nav1.1) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D45N (p.Asp45Asn) variant details
- p.Asp45Asn
- rs531894715
- NCI-TCGA Cosmic COSV5767
- cosmic curated COSV57674
- UniProt VAR 073442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)
- Cited in: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID 23708187)