D5E (p.Asp5Glu) variant of XPA (P23025)
D5E (p.Asp5Glu) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- 1000Genomes rs553043532
- ExAC rs553043532
- TOPMed rs553043532
- gnomAD rs553043532
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0555
- REVEL 0.04
- CADD 0.65
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available