T24M (p.Thr24Met) variant of STK11 (Q15831)
T24M (p.Thr24Met) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Melanoma, cutaneous malig. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T24M (p.Thr24Met) variant details
- p.Thr24Met
- rs770503805
- ClinGen CA048511
- ClinVar RCV000472539
- ClinVar RCV000568581
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Melanoma, cutaneous malig
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.47
- AlphaMissense 0.20
- MetaLR 0.49
- MetaSVM -0.29
- CADD 23.10
- PolyPhen-2 0.79
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Melanoma,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)