L27V (p.Leu27Val) variant of MEN1 (Menin)
L27V (p.Leu27Val) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- rs1006536599
- ClinGen CA381188046
- ClinVar RCV001039845
- TOPMed rs1006536599
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.43
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.66
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Likely benign
- UniProt: Likely benign
- 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)