V87F (p.Val87Phe) variant of XPC (Q01831)
V87F (p.Val87Phe) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
V87F (p.Val87Phe) variant details
- p.Val87Phe
- ESP rs374572265
- ExAC rs374572265
- TOPMed rs374572265
- gnomAD rs374572265
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.18
- CADD 13.20
- PolyPhen-2 0.23
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available