P26L (p.Pro26Leu) variant of DICER1 (Endoribonuclease Dicer)
P26L (p.Pro26Leu) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs201358110
- ClinGen CA7331751
- ClinVar RCV000537230
- ClinVar RCV000565379
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.33
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PEL population (allele frequency 0.018)
- 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)