S45T (p.Ser45Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S45T (p.Ser45Thr) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
S45T (p.Ser45Thr) variant details
- p.Ser45Thr
- ExAC rs746072429
- gnomAD rs746072429
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)