R72G (p.Arg72Gly) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R72G (p.Arg72Gly) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- ExAC rs760094345
- TOPMed rs760094345
- gnomAD rs760094345
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.07
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:FRENCH population (allele frequency 0.019)