L47F (p.Leu47Phe) variant of XPC (Q01831)
L47F (p.Leu47Phe) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L47F (p.Leu47Phe) variant details
- p.Leu47Phe
- ExAC rs757602118
- TOPMed rs757602118
- gnomAD rs757602118
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.10
- CADD 5.29
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available