E1199Q (p.Glu1199Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
E1199Q (p.Glu1199Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Amelogenesis imperfecta type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
E1199Q (p.Glu1199Gln) variant details
- p.Glu1199Gln
- rs2134567157
- ClinGen CA378066252
- ClinVar RCV003314768
- Likely pathogenic
- Amelogenesis imperfecta type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Likely pathogenic (Amelogenesis imperfecta type 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)