E27Q (p.Glu27Gln) variant of ERCC3 (P19447)
E27Q (p.Glu27Gln) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- ESP rs144596821
- ExAC rs144596821
- gnomAD rs144596821
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.09
- ESM-1b 0.22
- AlphaMissense 0.13
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available