T68P (p.Thr68Pro) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T68P (p.Thr68Pro) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
T68P (p.Thr68Pro) variant details
- p.Thr68Pro
- gnomAD rs1215503542
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00015)