M35L (p.Met35Leu) variant of MET (P08581)
M35L (p.Met35Leu) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal cell carcinoma; Hereditary cancer; Osteofibrous dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
M35L (p.Met35Leu) variant details
- p.Met35Leu
- rs375353223
- ClinGen CA160424
- cosmic curated COSV10589
- ClinVar RCV000121342
- Conflicting interpretations
- Renal cell carcinoma; Hereditary cancer; Osteofibrous dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.05
- MetaLR 0.25
- MetaSVM -0.73
- CADD 15.90
- PolyPhen-2 0.07
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Renal cell carcinoma; Hereditary cancer; Osteofibrous dysplasia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)