R123Q (p.Arg123Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R123Q (p.Arg123Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
R123Q (p.Arg123Gln) variant details
- p.Arg123Gln
- cosmic curated COSV10968
- ExAC rs775277648
- TOPMed rs775277648
- gnomAD rs775277648
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 28.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)