L34P (p.Leu34Pro) variant of MEN1 (Menin)
L34P (p.Leu34Pro) in MEN1 (Menin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. 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.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- Ensembl rs2136194166
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available