E32K (p.Glu32Lys) variant of XPC (Q01831)
E32K (p.Glu32Lys) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- ExAC rs768907247
- TOPMed rs768907247
- gnomAD rs768907247
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.07
- AlphaMissense 0.10
- MetaLR 0.13
- MetaSVM -1.02
- CADD 8.75
- PolyPhen-2 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available