G20C (p.Gly20Cys) variant of DCX (O43602)
G20C (p.Gly20Cys) in DCX (O43602) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- TOPMed rs1401318188
- gnomAD rs1401318188
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 25.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available