L97V (p.Leu97Val) variant of DCX (O43602)
L97V (p.Leu97Val) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lissencephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
L97V (p.Leu97Val) variant details
- p.Leu97Val
- rs1928574753
- ClinGen CA414246711
- ClinVar RCV001291057
- Ensembl rs1928574753
- Likely pathogenic
- Lissencephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.06
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Lissencephaly)
- EBI: Likely pathogenic (in SBHX)
- UniProt: Likely pathogenic (in SBHX)
- Structural context available