L34Q (p.Leu34Gln) variant of MEN1 (Menin)
L34Q (p.Leu34Gln) 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.
L34Q (p.Leu34Gln) variant details
- p.Leu34Gln
- Ensembl rs2136194166
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available