E10Q (p.Glu10Gln) variant of XPC (Q01831)
E10Q (p.Glu10Gln) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- ExAC rs747294422
- TOPMed rs747294422
- gnomAD rs747294422
- Missense
- Variant Prioritization Score for Impact Estimate 0.0493
- REVEL 0.04
- CADD 1.20
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available