T36I (p.Thr36Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T36I (p.Thr36Ile) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- Ensembl rs1438375670
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)