L30R (p.Leu30Arg) variant of NFE2L2 (Q16236)
L30R (p.Leu30Arg) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely oncogenic in the context of Neoplasm.
L30R (p.Leu30Arg) variant details
- p.Leu30Arg
- NCI-TCGA Cosmic COSV1012
- NCI-TCGA Cosmic COSV6796
- cosmic curated COSV67960
- Likely oncogenic
- Neoplasm
- Missense
- ClinVar: Likely oncogenic (Neoplasm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic