A108E (p.Ala108Glu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A108E (p.Ala108Glu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
A108E (p.Ala108Glu) variant details
- p.Ala108Glu
- 1000Genomes rs185337666
- TOPMed rs185337666
- gnomAD rs185337666
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 23.10
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)