V40M (p.Val40Met) variant of MEN1 (Menin)
V40M (p.Val40Met) in MEN1 (Menin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V40M (p.Val40Met) variant details
- p.Val40Met
- cosmic curated COSV56343
- Ensembl rs2136193531
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.83
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available