R34* (p.Arg34Ter) variant of NFE2L2 (Q16236)
R34* (p.Arg34Ter) in NFE2L2 (Q16236) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- rs748696421
- ClinGen CA349381737
- cosmic curated COSV67960
- ClinVar RCV003040632
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 1.82
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available