T25P (p.Thr25Pro) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T25P (p.Thr25Pro) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
T25P (p.Thr25Pro) variant details
- p.Thr25Pro
- ESP rs141274879
- TOPMed rs141274879
- gnomAD rs141274879
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 25.30
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)