E11D (p.Glu11Asp) variant of ERCC5 (P28715)
E11D (p.Glu11Asp) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD 13-102846299-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available