L256F (p.Leu256Phe) variant of MEN1 (Menin)
L256F (p.Leu256Phe) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
L256F (p.Leu256Phe) variant details
- p.Leu256Phe
- rs878855198
- ClinGen CA10582938
- cosmic curated COSV53647
- ClinVar RCV000234599
- Pathogenic/Likely pathogenic
- not provided; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple endocrine neoplasia, type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)