T24R (p.Thr24Arg) variant of STK11 (Q15831)
T24R (p.Thr24Arg) 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 0.43 / 1. The record also includes published literature and structural context.
T24R (p.Thr24Arg) variant details
- p.Thr24Arg
- rs770503805
- ClinGen CA402943491
- ClinVar RCV000772378
- ClinVar RCV001295486
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Peutz-Jeghers syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.20
- MetaLR 0.49
- MetaSVM -0.29
- PolyPhen-2 0.79
- SIFT 0.37
- 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)