Q7* (p.Gln7Ter) variant of STK11 (Q15831)
Q7* (p.Gln7Ter) in STK11 (Q15831) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs2080669968
- ClinGen CA402943051
- ClinVar RCV001890059
- Ensembl rs2080669968
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.09
- MetaLR 0.19
- MetaSVM -0.80
- PolyPhen-2 0.02
- SIFT 0.03
- MutPred 0.43
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)