I18T (p.Ile18Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
I18T (p.Ile18Thr) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- TOPMed rs1439368339
- gnomAD rs1439368339
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00015)