G35R (p.Gly35Arg) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G35R (p.Gly35Arg) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
G35R (p.Gly35Arg) variant details
- p.Gly35Arg
- ExAC rs770596972
- TOPMed rs770596972
- gnomAD rs770596972
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 22.50
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)