E2G (p.Glu2Gly) variant of STK11 (Q15831)
E2G (p.Glu2Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- rs1159551738
- ClinGen CA402942917
- ClinVar RCV003507200
- Uncertain significance
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.24
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Peutz-Jeghers Syndrome. (PMID 20301443)