H74L (p.His74Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
H74L (p.His74Leu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
H74L (p.His74Leu) variant details
- p.His74Leu
- gnomAD rs1352482674
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)