K42T (p.Lys42Thr) variant of SCN1A (P35498)
K42T (p.Lys42Thr) 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 0.43 / 1. The record also includes population frequency data and structural context.
K42T (p.Lys42Thr) variant details
- p.Lys42Thr
- rs760777182
- ClinGen CA1943566
- cosmic curated COSV57660
- ClinVar RCV006468262
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 23.30
- PolyPhen-2 0.96
- SIFT 0.15
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available