L199P (p.Leu199Pro) variant of DCX (O43602)
L199P (p.Leu199Pro) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
L199P (p.Leu199Pro) variant details
- p.Leu199Pro
- rs587783569
- ClinGen CA172023
- ClinVar RCV000145871
- ClinVar RCV000478870
- Likely pathogenic
- not provided; Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 1.00
- MetaLR 0.45
- MetaSVM 0.01
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (not provided; Ectopic tissue)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available