R102H (p.Arg102His) variant of DCX (O43602)
R102H (p.Arg102His) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Lissencephaly type 1 due to doublecortin gene mutation; Ectopic ti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R102H (p.Arg102His) variant details
- p.Arg102His
- rs267606317
- ClinGen CA171926
- cosmic curated COSV57570
- ClinVar RCV000145834
- Conflicting interpretations
- not provided; Lissencephaly type 1 due to doublecortin gene mutation; Ectopic ti
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Lissencephaly type 1 due to doublecortin gene muta)
- EBI: Pathogenic (in LISX1)
- UniProt: Pathogenic (in LISX1)
- Population evidence available
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)