K88N (p.Lys88Asn) variant of SCN1A (P35498)
K88N (p.Lys88Asn) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K88N (p.Lys88Asn) variant details
- p.Lys88Asn
- rs1025532519
- ClinGen CA60270522
- ClinVar RCV001556767
- ClinVar RCV006466256
- Conflicting interpretations
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (not provided; Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available