V4G (p.Val4Gly) variant of STK11 (Q15831)
V4G (p.Val4Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
V4G (p.Val4Gly) variant details
- p.Val4Gly
- rs1599914720
- ClinGen CA402942973
- ClinVar RCV002347181
- Ensembl rs1599914720
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.05
- MetaLR 0.06
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)