D70E (p.Asp70Glu) variant of ERCC3 (P19447)
D70E (p.Asp70Glu) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D70E (p.Asp70Glu) variant details
- p.Asp70Glu
- rs1279830695
- ClinGen CA348392029
- ClinVar RCV002720666
- gnomAD rs1279830695
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 25.40
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available