K50E (p.Lys50Glu) variant of XPC (Q01831)
K50E (p.Lys50Glu) in XPC (Q01831) is a missense change. 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.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- TOPMed rs1696675526
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.10
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available