R78L (p.Arg78Leu) variant of DCX (O43602)
R78L (p.Arg78Leu) 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 0.92 / 1. The record also includes published literature and structural context.
R78L (p.Arg78Leu) variant details
- p.Arg78Leu
- rs104894784
- ClinGen CA171896
- ClinVar RCV000145824
- ClinVar RCV001291058
- Pathogenic
- in SBHX
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 1.03
- SIFT 0.00
- EVE 0.87
- 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: Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is… (PMID 9668176)