E10G (p.Glu10Gly) variant of XPA (P23025)
E10G (p.Glu10Gly) in XPA (P23025) 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 0.30 / 1. The record also includes population frequency data and structural context.
E10G (p.Glu10Gly) variant details
- p.Glu10Gly
- ExAC rs755452842
- TOPMed rs755452842
- gnomAD rs755452842
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.06
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available