L43S (p.Leu43Ser) variant of DCX (O43602)
L43S (p.Leu43Ser) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LISX1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
L43S (p.Leu43Ser) variant details
- p.Leu43Ser
- rs587783521
- ClinGen CA171850
- ClinVar RCV000145808
- UniProt VAR 007819
- Pathogenic
- in LISX1
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.72
- SIFT 0.03
- EVE 0.52
- EBI: Pathogenic (in LISX1)
- UniProt: Pathogenic (in LISX1)
- Structural context available
- Cited in: LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. (PMID 9817918)
- Cited in: Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. (PMID 11468322)