L30V (p.Leu30Val) variant of MET (P08581)
L30V (p.Leu30Val) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- cosmic curated COSV10589
- TOPMed rs1060504939
- gnomAD rs1060504939
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.09
- MetaLR 0.23
- MetaSVM -0.89
- CADD 11.30
- PolyPhen-2 0.03
- SIFT 0.30
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available