L18V (p.Leu18Val) variant of MET (P08581)
L18V (p.Leu18Val) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal cell carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs1260001540
- ClinGen CA368968234
- ClinVar RCV003762268
- gnomAD rs1260001540
- Uncertain significance
- Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM 0.00
- CADD 9.41
- PolyPhen-2 0.54
- SIFT 0.01
- ClinVar: Uncertain significance (Renal cell carcinoma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available