L97R (p.Leu97Arg) variant of DCX (O43602)
L97R (p.Leu97Arg) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SBHX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L97R (p.Leu97Arg) variant details
- p.Leu97Arg
- rs587783537
- ClinGen CA171908
- ClinVar RCV000145828
- UniProt VAR 026027
- Pathogenic
- in SBHX
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.88
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)
- Cited in: A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band… (PMID 10369164)