T15I (p.Thr15Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T15I (p.Thr15Ile) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
T15I (p.Thr15Ile) variant details
- p.Thr15Ile
- ExAC rs758854385
- TOPMed rs758854385
- gnomAD rs758854385
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 25.20
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)