G677D (p.Gly677Asp) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G677D (p.Gly677Asp) 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 0.85 / 1.
G677D (p.Gly677Asp) variant details
- p.Gly677Asp
- rs751749614
- ClinGen CA378069738
- ClinVar RCV003314773
- Likely pathogenic
- Amelogenesis imperfecta type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 0.60
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.70
- ClinVar: Likely pathogenic (Amelogenesis imperfecta type 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic