P19L (p.Pro19Leu) variant of DICER1 (Endoribonuclease Dicer)
P19L (p.Pro19Leu) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs587778227
- ClinGen CA158258
- ClinVar RCV000120632
- ClinVar RCV001854608
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.34
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-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)