E95D (p.Glu95Asp) variant of ERCC2 (P18074)
E95D (p.Glu95Asp) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E95D (p.Glu95Asp) variant details
- p.Glu95Asp
- TOPMed rs1281566631
- gnomAD rs1281566631
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.16
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available