P191R (p.Pro191Arg) variant of DCX (O43602)
P191R (p.Pro191Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
P191R (p.Pro191Arg) variant details
- p.Pro191Arg
- rs587783566
- ClinGen CA172007
- ClinVar RCV000145863
- ClinVar RCV000498232
- Pathogenic
- not provided; Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.03
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (not provided; Ectopic tissue)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. (PMID 9989615)
- Cited in: A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band… (PMID 10369164)