L17V (p.Leu17Val) variant of STK11 (Q15831)
L17V (p.Leu17Val) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome; Melanoma, cutan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- rs780581573
- ClinGen CA047985
- ClinVar RCV000526066
- ClinVar RCV000774552
- Uncertain significance
- Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome; Melanoma, cutan
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.15
- MetaLR 0.21
- MetaSVM -0.73
- CADD 23.40
- PolyPhen-2 0.36
- SIFT 0.03
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome; 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
- 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)