V4M (p.Val4Met) variant of STK11 (Q15831)
V4M (p.Val4Met) 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; not provided; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V4M (p.Val4Met) variant details
- p.Val4Met
- rs767300470
- ClinGen CA402942954
- cosmic curated COSV58822
- ClinVar RCV000563171
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.16
- MetaLR 0.13
- MetaSVM -0.98
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Peutz-Jeg)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)