D81E (p.Asp81Glu) variant of ERCC3 (P19447)
D81E (p.Asp81Glu) in ERCC3 (P19447) is a missense change. 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.
D81E (p.Asp81Glu) variant details
- p.Asp81Glu
- Ensembl rs1046333193
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 23.60
- PolyPhen-2 0.64
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available