M24V (p.Met24Val) variant of DICER1 (Endoribonuclease Dicer)
M24V (p.Met24Val) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M24V (p.Met24Val) variant details
- p.Met24Val
- rs754439528
- ClinGen CA10583231
- cosmic curated COSV10060
- ClinVar RCV000226545
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.27
- CADD 23.60
- PolyPhen-2 0.82
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-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)