L11M (p.Leu11Met) variant of RET (P07949)
L11M (p.Leu11Met) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not specified; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- rs587780812
- ClinGen CA206710333
- ClinVar RCV000575741
- ClinVar RCV000689589
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.22
- MetaLR 0.94
- MetaSVM 0.77
- CADD 23.00
- PolyPhen-2 0.68
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; Pheochro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)
- Cited in: Medullary thyroid cancer: management guidelines of the American Thyroid Association. (PMID 19469690)