R6* (p.Arg6Ter) variant of ERCC3 (P19447)
R6* (p.Arg6Ter) in ERCC3 (P19447) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R6* (p.Arg6Ter) variant details
- p.Arg6Ter
- 1000Genomes rs542029381
- ExAC rs542029381
- gnomAD rs542029381
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 37.00
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available