L7F (p.Leu7Phe) variant of MET (P08581)
L7F (p.Leu7Phe) in MET (P08581) 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 0.21 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- Ensembl rs2116578008
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.07
- MetaLR 0.30
- MetaSVM -0.48
- CADD 11.40
- PolyPhen-2 0.06
- SIFT 0.69
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available