G133E (p.Gly133Glu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G133E (p.Gly133Glu) 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.
G133E (p.Gly133Glu) variant details
- p.Gly133Glu
- ESP rs377510926
- ExAC rs377510926
- TOPMed rs377510926
- gnomAD rs377510926
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)