M11L (p.Met11Leu) variant of STK11 (Q15831)
M11L (p.Met11Leu) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; See cases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
M11L (p.Met11Leu) variant details
- p.Met11Leu
- rs753834428
- ClinGen CA402943119
- ClinVar RCV000695432
- ClinVar RCV001019148
- Uncertain significance
- Hereditary cancer-predisposing syndrome; See cases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.06
- CADD 6.74
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; See cases; not specifie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)