N56K (p.Asn56Lys) variant of SCN8A (Q9UQD0)
N56K (p.Asn56Lys) 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 0.74 / 1. The record also includes structural context.
N56K (p.Asn56Lys) variant details
- p.Asn56Lys
- rs1940955072
- ClinGen CA385228130
- ClinVar RCV002265321
- Ensembl rs1940955072
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- ESM-1b 0.83
- AlphaMissense 0.92
- MetaLR 0.82
- MetaSVM 0.82
- PolyPhen-2 0.82
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available