V50F (p.Val50Phe) variant of MEN1 (Menin)
V50F (p.Val50Phe) in MEN1 (Menin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V50F (p.Val50Phe) variant details
- p.Val50Phe
- Ensembl rs1942011354
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.83
- AlphaMissense 0.37
- MetaLR 0.93
- MetaSVM 0.99
- CADD 24.70
- PolyPhen-2 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available