K41E (p.Lys41Glu) variant of SCN1A (P35498)
K41E (p.Lys41Glu) in SCN1A (P35498) 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 0.54 / 1. The record also includes population frequency data and structural context.
K41E (p.Lys41Glu) variant details
- p.Lys41Glu
- rs764444350
- ClinGen CA1943567
- ClinVar RCV001763063
- ExAC rs764444350
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.10
- MetaLR 0.77
- MetaSVM -0.09
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available