T28I (p.Thr28Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T28I (p.Thr28Ile) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
T28I (p.Thr28Ile) variant details
- p.Thr28Ile
- ExAC rs763666988
- TOPMed rs763666988
- gnomAD rs763666988
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 27.50
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)