L34V (p.Leu34Val) variant of MEN1 (Menin)
L34V (p.Leu34Val) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, 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 0.68 / 1. The record also includes population frequency data and structural context.
L34V (p.Leu34Val) variant details
- p.Leu34Val
- ExAC rs771554497
- gnomAD rs771554497
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.84
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.6e-05)
- Structural context available