G61E (p.Gly61Glu) variant of DCX (O43602)
G61E (p.Gly61Glu) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
G61E (p.Gly61Glu) variant details
- p.Gly61Glu
- rs587783527
- ClinGen CA171869
- ClinVar RCV000145815
- Ensembl rs587783527
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.94
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available