D33E (p.Asp33Glu) variant of ERCC3 (P19447)
D33E (p.Asp33Glu) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- TOPMed rs907355401
- gnomAD rs907355401
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.40
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available