L168V (p.Leu168Val) variant of MEN1 (Menin)
L168V (p.Leu168Val) 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 0.91 / 1. The record also includes published literature and structural context.
L168V (p.Leu168Val) variant details
- p.Leu168Val
- rs1555165846
- ClinGen CA381186060
- ClinVar RCV000632089
- Ensembl rs1555165846
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.79
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Likely benign (in MEN1)
- UniProt: Likely benign (in MEN1)
- 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)