D1200Y (p.Asp1200Tyr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
D1200Y (p.Asp1200Tyr) 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 0.61 / 1.
D1200Y (p.Asp1200Tyr) variant details
- p.Asp1200Tyr
- rs2086265807
- ClinGen CA378066244
- ClinVar RCV003883505
- Pathogenic
- Amelogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 0.17
- MetaLR 0.73
- MetaSVM 0.51
- PolyPhen-2 0.39
- SIFT 0.04
- EVE 0.61
- ClinVar: Pathogenic (Amelogenesis imperfecta)
- EBI: Pathogenic
- UniProt: Pathogenic