L91P (p.Leu91Pro) variant of DCX (O43602)
L91P (p.Leu91Pro) 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.
L91P (p.Leu91Pro) variant details
- p.Leu91Pro
- rs587783536
- ClinGen CA171905
- ClinVar RCV000145827
- Ensembl rs587783536
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available