K39N (p.Lys39Asn) variant of SCN8A (Q9UQD0)
K39N (p.Lys39Asn) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
K39N (p.Lys39Asn) variant details
- p.Lys39Asn
- rs1940953152
- ClinGen CA385227798
- ClinVar RCV001326362
- Ensembl rs1940953152
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- ESM-1b 0.00
- AlphaMissense 0.65
- MetaLR 0.76
- MetaSVM 0.38
- PolyPhen-2 0.92
- SIFT 0.10
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available