R22W (p.Arg22Trp) variant of DCX (O43602)
R22W (p.Arg22Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs1928603116
- ClinGen CA414247197
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57569
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available