H107Q (p.His107Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
H107Q (p.His107Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
H107Q (p.His107Gln) variant details
- p.His107Gln
- TOPMed rs1359342982
- gnomAD rs1359342982
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 11.10
- PolyPhen-2 0.24
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)