K180E (p.Lys180Glu) variant of DCX (O43602)
K180E (p.Lys180Glu) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
K180E (p.Lys180Glu) variant details
- p.Lys180Glu
- rs587783560
- ClinGen CA171986
- ClinVar RCV000145856
- ClinVar RCV002515957
- Pathogenic
- not provided; Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 0.99
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (not provided; Ectopic tissue)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available