R28* (p.Arg28Ter) variant of ID3 (Q02535)
R28* (p.Arg28Ter) in ID3 (Q02535) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and published literature.
R28* (p.Arg28Ter) variant details
- p.Arg28Ter
- gnomAD 1-23559345-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 41.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Literature evidence available