R186L (p.Arg186Leu) variant of DCX (O43602)
R186L (p.Arg186Leu) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lissencephaly type 1 due to doublecortin gene mutation; Ectopic tissue; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
R186L (p.Arg186Leu) variant details
- p.Arg186Leu
- rs587783563
- ClinGen CA171998
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57567
- Pathogenic/Likely pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation; Ectopic tissue; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.03
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic/Likely pathogenic (Lissencephaly type 1 due to doublecortin gene mutation; Ectopic)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available