Q3K (p.Gln3Lys) variant of SCN1A (P35498)
Q3K (p.Gln3Lys) in SCN1A (P35498) 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 0.76 / 1. The record also includes population frequency data and structural context.
Q3K (p.Gln3Lys) variant details
- p.Gln3Lys
- rs924198007
- ClinGen CA60270536
- ClinVar RCV006468361
- TOPMed rs924198007
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 23.60
- PolyPhen-2 0.72
- SIFT 0.16
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available