E23D (p.Glu23Asp) variant of ERCC5 (P28715)
E23D (p.Glu23Asp) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- gnomAD 13-102846335-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.90
- PolyPhen-2 0.41
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available