E11Q (p.Glu11Gln) variant of ERCC5 (P28715)
E11Q (p.Glu11Gln) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
E11Q (p.Glu11Gln) variant details
- p.Glu11Gln
- ExAC rs778247692
- gnomAD rs778247692
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)