R19Q (p.Arg19Gln) variant of DCX (O43602)
R19Q (p.Arg19Gln) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57568
- gnomAD rs1928603936
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available