E99D (p.Glu99Asp) variant of COL17A1 (Collagen alpha-1(XVII) chain)
E99D (p.Glu99Asp) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
E99D (p.Glu99Asp) variant details
- p.Glu99Asp
- TOPMed rs1202683877
- gnomAD rs1202683877
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 15.90
- Most common in the 1KG:MSL population (allele frequency 0.013)