R106L (p.Arg106Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R106L (p.Arg106Leu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
R106L (p.Arg106Leu) variant details
- p.Arg106Leu
- 1000Genomes rs529850690
- ExAC rs529850690
- TOPMed rs529850690
- gnomAD rs529850690
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 23.70
- PolyPhen-2 0.65
- SIFT 0.04
- Most common in the 1KG:MXL population (allele frequency 0.0081)