G24D (p.Gly24Asp) variant of ERCC5 (P28715)
G24D (p.Gly24Asp) in ERCC5 (P28715) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- gnomAD 13-102846331-TGGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available