S114G (p.Ser114Gly) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S114G (p.Ser114Gly) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
S114G (p.Ser114Gly) variant details
- p.Ser114Gly
- 1000Genomes rs565675634
- ExAC rs565675634
- gnomAD rs565675634
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 27.00
- Most common in the REMAINING population (allele frequency 0.00048)