D12G (p.Asp12Gly) variant of DCX (O43602)
D12G (p.Asp12Gly) 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 0.61 / 1. The record also includes population frequency data and structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- rs2147276738
- ClinGen CA414247261
- ClinVar RCV002276230
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 28.60
- PolyPhen-2 0.71
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available