T102I (p.Thr102Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T102I (p.Thr102Ile) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
T102I (p.Thr102Ile) variant details
- p.Thr102Ile
- TOPMed rs1371127844
- gnomAD rs1371127844
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)