S240L (p.Ser240Leu) variant of STK11 (Q15831)
S240L (p.Ser240Leu) 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; Melanoma, cutaneous malignant, suscepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
S240L (p.Ser240Leu) variant details
- p.Ser240Leu
- rs730881976
- ClinGen CA402949942
- cosmic curated COSV58830
- ClinVar RCV001202671
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, suscepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Melanoma, cutaneous mal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.8e-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)