I26V (p.Ile26Val) variant of STK11 (Q15831)
I26V (p.Ile26Val) 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 0.51 / 1. The record also includes published literature and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- rs1555734913
- ClinGen CA402943520
- ClinVar RCV000527741
- ClinVar RCV002404387
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- AlphaMissense 0.79
- MetaLR 0.61
- MetaSVM -0.16
- PolyPhen-2 0.79
- SIFT 0.19
- EVE 0.24
- 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)