P4R (p.Pro4Arg) variant of DICER1 (Endoribonuclease Dicer)
P4R (p.Pro4Arg) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- rs2140296806
- ClinGen CA390890825
- ClinVar RCV001363004
- ClinVar RCV002350681
- Uncertain significance
- Hereditary cancer-predisposing syndrome; DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.20
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.01
- 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 9e-07)
- 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)