D33E (p.Asp33Glu) variant of ERCC2 (P18074)
D33E (p.Asp33Glu) in ERCC2 (P18074) 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 0.49 / 1. The record also includes population frequency data and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- TOPMed rs1327800504
- gnomAD rs1327800504
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.61
- CADD 24.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available