G21C (p.Gly21Cys) variant of STK11 (Q15831)
G21C (p.Gly21Cys) 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 0.44 / 1. The record also includes published literature and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- rs1064793751
- ClinGen CA402943379
- ClinVar RCV001039056
- ClinVar RCV005286275
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.19
- MetaLR 0.52
- MetaSVM 0.07
- PolyPhen-2 0.56
- SIFT 0.12
- EVE 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)