H107D (p.His107Asp) variant of COL17A1 (Collagen alpha-1(XVII) chain)
H107D (p.His107Asp) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
H107D (p.His107Asp) variant details
- p.His107Asp
- TOPMed rs1428225678
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 22.60
- PolyPhen-2 0.87
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)