K54N (p.Lys54Asn) variant of DCX (O43602)
K54N (p.Lys54Asn) in DCX (O43602) 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 0.47 / 1. The record also includes structural context.
K54N (p.Lys54Asn) variant details
- p.Lys54Asn
- rs1928591160
- ClinGen CA414246976
- ClinVar RCV001090399
- Ensembl rs1928591160
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 1.00
- MetaLR 0.36
- MetaSVM -0.45
- SIFT 0.01
- EVE 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available