A108G (p.Ala108Gly) variant of COL17A1 (Collagen alpha-1(XVII) chain)
A108G (p.Ala108Gly) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
A108G (p.Ala108Gly) variant details
- p.Ala108Gly
- 1000Genomes rs185337666
- TOPMed rs185337666
- gnomAD rs185337666
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 19.60
- PolyPhen-2 0.39
- SIFT 0.39
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)