E1404K (p.Glu1404Lys) variant of DCC (Netrin receptor DCC)
E1404K (p.Glu1404Lys) in DCC (Netrin receptor DCC) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Gaze palsy, familial horizontal, with progressive scoliosis, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E1404K (p.Glu1404Lys) variant details
- p.Glu1404Lys
- rs374199141
- cosmic curated COSV71434
- ClinVar RCV002465426
- ESP rs374199141
- no classification for the single variant
- Gaze palsy, familial horizontal, with progressive scoliosis, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.14
- MetaLR 0.22
- MetaSVM -0.88
- CADD 31.00
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available