F102Y (p.Phe102Tyr) variant of XPC (Q01831)
F102Y (p.Phe102Tyr) in XPC (Q01831) is a missense change. Clinical records from ClinVar 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 0.09 / 1. The record also includes population frequency data and structural context.
F102Y (p.Phe102Tyr) variant details
- p.Phe102Tyr
- gnomAD rs1197704562
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0911
- REVEL 0.09
- CADD 5.32
- PolyPhen-2 0.04
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available