N96K (p.Asn96Lys) variant of DCX (O43602)
N96K (p.Asn96Lys) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fucosidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
N96K (p.Asn96Lys) variant details
- p.Asn96Lys
- rs1556405057
- ClinGen CA414246714
- ClinVar RCV000625954
- Ensembl rs1556405057
- Likely pathogenic
- Fucosidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.99
- MetaLR 0.26
- MetaSVM -0.67
- SIFT 0.18
- EVE 0.36
- ClinVar: Likely pathogenic (Fucosidosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available