P4L (p.Pro4Leu) variant of MET (P08581)
P4L (p.Pro4Leu) 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 0.16 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- Ensembl rs2116577769
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.06
- MetaLR 0.18
- MetaSVM -0.95
- CADD 9.57
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available