T32I (p.Thr32Ile) variant of STK11 (Q15831)
T32I (p.Thr32Ile) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melanoma, cutaneous malignant, susceptibility to, 1; Peutz-Jeghers syndrome; Her. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- rs2145404870
- ClinGen CA402943719
- ClinVar RCV003618452
- ClinVar RCV004574250
- Uncertain significance
- Melanoma, cutaneous malignant, susceptibility to, 1; Peutz-Jeghers syndrome; Her
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.30
- MetaLR 0.55
- MetaSVM -0.22
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (Melanoma, cutaneous malignant, susceptibility to, 1; Peutz-Jeghe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)