M24I (p.Met24Ile) variant of DICER1 (Endoribonuclease Dicer)
M24I (p.Met24Ile) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M24I (p.Met24Ile) variant details
- p.Met24Ile
- rs751520020
- ClinGen CA7331753
- ClinVar RCV000572085
- ClinVar RCV000804944
- Uncertain significance
- Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.24
- CADD 26.90
- PolyPhen-2 0.89
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; DICER1-related tumor pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- 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)