L46R (p.Leu46Arg) variant of NF2 (Merlin)
L46R (p.Leu46Arg) in NF2 (Merlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in vestibular schwannoma. The record also includes published literature and structural context.
L46R (p.Leu46Arg) variant details
- p.Leu46Arg
- UniProt VAR 000809
- Uncertain significance
- in vestibular schwannoma
- Missense
- EBI: Variant of uncertain significance (in vestibular schwannoma)
- UniProt: Uncertain significance (in vestibular schwannoma)
- Structural context available
- Cited in: Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus. (PMID 20178741)
- Cited in: Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma. (PMID 8004107)