L3V (p.Leu3Val) variant of MEN1 (Menin)
L3V (p.Leu3Val) in MEN1 (Menin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- Ensembl rs2136197058
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.55
- CADD 24.00
- PolyPhen-2 0.32
- SIFT 0.04
- Population evidence available
- Structural context available