V3G (p.Val3Gly) variant of STK11 (Q15831)
V3G (p.Val3Gly) 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; Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V3G (p.Val3Gly) variant details
- p.Val3Gly
- rs886054216
- ClinGen CA10652247
- ClinVar RCV000347967
- ClinVar RCV000569286
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.05
- MetaLR 0.15
- MetaSVM -0.84
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)