L36H (p.Leu36His) variant of MEN1 (Menin)
L36H (p.Leu36His) in MEN1 (Menin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L36H (p.Leu36His) variant details
- p.Leu36His
- cosmic curated COSV56343
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available