R102S (p.Arg102Ser) variant of DCX (O43602)
R102S (p.Arg102Ser) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lissencephaly type 1 due to doublecortin gene mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
R102S (p.Arg102Ser) variant details
- p.Arg102Ser
- rs587783541
- ClinGen CA414246685
- ClinVar RCV001775265
- UniProt VAR 007827
- Pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Lissencephaly type 1 due to doublecortin gene mutation)
- 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: DCX-Related Disorders. (PMID 20301364)