Q64* (p.Gln64Ter) variant of ERCC3 (P19447)
Q64* (p.Gln64Ter) in ERCC3 (P19447) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Q64* (p.Gln64Ter) variant details
- p.Gln64Ter
- Ensembl rs2104782895
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 39.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available