L64F (p.Leu64Phe) variant of DICER1 (Endoribonuclease Dicer)
L64F (p.Leu64Phe) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L64F (p.Leu64Phe) variant details
- p.Leu64Phe
- rs1231822339
- ClinGen CA390890030
- ClinVar RCV000531832
- ClinVar RCV001013744
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.43
- CADD 23.50
- PolyPhen-2 0.86
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 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)