G567E (p.Gly567Glu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G567E (p.Gly567Glu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Amelogenesis imperfecta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
G567E (p.Gly567Glu) variant details
- p.Gly567Glu
- rs2493339279
- ClinGen CA378071667
- ClinVar RCV003883506
- Pathogenic
- Amelogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Amelogenesis imperfecta)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)