E120D (p.Glu120Asp) variant of ERCC2 (P18074)
E120D (p.Glu120Asp) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E120D (p.Glu120Asp) variant details
- p.Glu120Asp
- gnomAD rs1349542172
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.23
- CADD 29.80
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available