E20E (p.Glu20Glu) variant of ERCC5 (P28715)
E20E (p.Glu20Glu) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E20E (p.Glu20Glu) variant details
- p.Glu20Glu
- rs1881957836
- gnomAD 13-102846326-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 8.59
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available