R34G (p.Arg34Gly) variant of NFE2L2 (Q16236)
R34G (p.Arg34Gly) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely oncogenic in the context of Neoplasm. 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.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- NCI-TCGA Cosmic COSV6796
- cosmic curated COSV67960
- ExAC rs748696421
- Likely oncogenic
- Neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 2.24
- ClinVar: Likely oncogenic (Neoplasm)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available