V50I (p.Val50Ile) variant of MEN1 (Menin)
V50I (p.Val50Ile) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V50I (p.Val50Ile) variant details
- p.Val50Ile
- rs1942011354
- ClinGen CA381187798
- ClinVar RCV001062618
- Ensembl rs1942011354
- Uncertain significance
- Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.60
- AlphaMissense 0.37
- MetaLR 0.93
- MetaSVM 0.99
- CADD 22.70
- PolyPhen-2 0.23
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)