G133R (p.Gly133Arg) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G133R (p.Gly133Arg) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
G133R (p.Gly133Arg) variant details
- p.Gly133Arg
- 1000Genomes rs528672463
- ExAC rs528672463
- TOPMed rs528672463
- gnomAD rs528672463
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)