R196C (p.Arg196Cys) variant of DCX (O43602)
R196C (p.Arg196Cys) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Ectopic tissue; Lissencephaly type 1 due to doublecortin gene muta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R196C (p.Arg196Cys) variant details
- p.Arg196Cys
- rs587783568
- ClinGen CA172017
- ClinVar RCV000145868
- ClinVar RCV000440789
- Pathogenic
- not provided; Ectopic tissue; Lissencephaly type 1 due to doublecortin gene muta
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.02
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Ectopic tissue; Lissencephaly type 1 due to double)
- EBI: Pathogenic (in epilepsy)
- UniProt: Pathogenic (in epilepsy)
- Population evidence available
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)