I177N (p.Ile177Asn) variant of STK11 (Q15831)
I177N (p.Ile177Asn) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Peutz-Jeghers syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
I177N (p.Ile177Asn) variant details
- p.Ile177Asn
- rs1057520041
- ClinVar RCV005052143
- UniProt VAR 065638
- Ensembl rs1057520041
- Likely pathogenic
- Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Peutz-Jeghers syndrome)
- EBI: Likely pathogenic (in sporadic cancer)
- UniProt: Likely pathogenic (in sporadic cancer)
- Structural context available
- Cited in: Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. (PMID 19892943)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)