L228P (p.Leu228Pro) variant of DCX (O43602)
L228P (p.Leu228Pro) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
L228P (p.Leu228Pro) variant details
- p.Leu228Pro
- rs587783580
- ClinGen CA172051
- ClinVar RCV000145883
- Ensembl rs587783580
- Pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.07
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Ectopic tissue)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available