V182F (p.Val182Phe) variant of DCX (O43602)
V182F (p.Val182Phe) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Lissencephaly type 1 due to doublecortin gene mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
V182F (p.Val182Phe) variant details
- p.Val182Phe
- rs1556401951
- ClinGen CA414246129
- ClinVar RCV000501007
- ClinVar RCV002292556
- Pathogenic/Likely pathogenic
- not provided; Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.09
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (not provided; Lissencephaly type 1 due to doublecortin gene muta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)