Q85E (p.Gln85Glu) variant of XPA (P23025)
Q85E (p.Gln85Glu) in XPA (P23025) 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 0.15 / 1. The record also includes population frequency data and structural context.
Q85E (p.Gln85Glu) variant details
- p.Gln85Glu
- ExAC rs765361885
- TOPMed rs765361885
- gnomAD rs765361885
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.06
- CADD 6.04
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available