K72E (p.Lys72Glu) variant of XPC (Q01831)
K72E (p.Lys72Glu) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K72E (p.Lys72Glu) variant details
- p.Lys72Glu
- TOPMed rs1250574795
- gnomAD rs1250574795
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.18
- CADD 18.60
- PolyPhen-2 0.19
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available