E13D (p.Glu13Asp) variant of COL17A1 (Collagen alpha-1(XVII) chain)
E13D (p.Glu13Asp) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- gnomAD rs112910470
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.08
- Population evidence available