K50N (p.Lys50Asn) variant of DCX (O43602)
K50N (p.Lys50Asn) 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 0.38 / 1. The record also includes published literature and structural context.
K50N (p.Lys50Asn) variant details
- p.Lys50Asn
- rs587783523
- ClinGen CA171856
- ClinVar RCV000145810
- UniProt VAR 026023
- Pathogenic
- in SBHX
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- AlphaMissense 0.99
- MetaLR 0.17
- MetaSVM -0.98
- SIFT 0.00
- EVE 0.60
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root… (PMID 11601509)
- Cited in: A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band… (PMID 10369164)