T89S (p.Thr89Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T89S (p.Thr89Ser) 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.
T89S (p.Thr89Ser) variant details
- p.Thr89Ser
- Ensembl rs2086710421
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)