G100E (p.Gly100Glu) variant of DCX (O43602)
G100E (p.Gly100Glu) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LISX1 and SBHX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G100E (p.Gly100Glu) variant details
- p.Gly100Glu
- rs587783538
- ClinGen CA171911
- ClinVar RCV000145829
- Ensembl rs587783538
- Pathogenic
- in LISX1 and SBHX
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.95
- EBI: Pathogenic (in LISX1 and SBHX)
- UniProt: Pathogenic (in LISX1 and SBHX)
- Structural context available