M24T (p.Met24Thr) variant of DICER1 (Endoribonuclease Dicer)
M24T (p.Met24Thr) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M24T (p.Met24Thr) variant details
- p.Met24Thr
- rs1349780844
- ClinGen CA390890576
- ClinVar RCV002370855
- ClinVar RCV003098500
- Uncertain significance
- DICER1-related tumor predisposition; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.29
- CADD 25.50
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Uncertain significance (DICER1-related tumor predisposition; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)