T77I (p.Thr77Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T77I (p.Thr77Ile) 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.
T77I (p.Thr77Ile) variant details
- p.Thr77Ile
- ExAC rs773524594
- TOPMed rs773524594
- gnomAD rs773524594
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 25.10
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)