L30H (p.Leu30His) variant of NFE2L2 (Q16236)
L30H (p.Leu30His) in NFE2L2 (Q16236) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic.
L30H (p.Leu30His) variant details
- p.Leu30His
- NCI-TCGA Cosmic COSV1012
- NCI-TCGA Cosmic COSV6796
- cosmic curated COSV67961
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic