P23S (p.Pro23Ser) variant of DICER1 (Endoribonuclease Dicer)
P23S (p.Pro23Ser) 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.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs1555376567
- ClinGen CA390890592
- ClinVar RCV000531961
- ClinVar RCV002367961
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.36
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)