L3P (p.Leu3Pro) variant of MEN1 (Menin)
L3P (p.Leu3Pro) 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 0.77 / 1. The record also includes population frequency data and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- Ensembl rs867123970
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 4.4e-05)
- Structural context available