H60I (p.His60Ile) variant of ERCC5 (P28715)
H60I (p.His60Ile) in ERCC5 (P28715) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H60I (p.His60Ile) variant details
- p.His60Ile
- gnomAD 13-102852203-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 32.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available