V87I (p.Val87Ile) variant of XPC (Q01831)
V87I (p.Val87Ile) in XPC (Q01831) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
V87I (p.Val87Ile) variant details
- p.Val87Ile
- ESP rs374572265
- ExAC rs374572265
- TOPMed rs374572265
- gnomAD rs374572265
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0944
- REVEL 0.03
- CADD 4.52
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available