L52V (p.Leu52Val) variant of DICER1 (Endoribonuclease Dicer)
L52V (p.Leu52Val) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
L52V (p.Leu52Val) variant details
- p.Leu52Val
- rs1595466704
- ClinGen CA390890166
- ClinVar RCV000803836
- ClinVar RCV004028155
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)