R17T (p.Arg17Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R17T (p.Arg17Thr) 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.
R17T (p.Arg17Thr) variant details
- p.Arg17Thr
- ExAC rs765309382
- gnomAD rs765309382
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 24.80
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)