P4S (p.Pro4Ser) variant of DICER1 (Endoribonuclease Dicer)
P4S (p.Pro4Ser) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DICER1-related tumor predisposition; Global developmental delay - lung cysts - o. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs772433602
- ClinGen CA7331761
- ClinVar RCV001017296
- ClinVar RCV001363323
- Uncertain significance
- DICER1-related tumor predisposition; Global developmental delay - lung cysts - o
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.13
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.02
- ClinVar: Uncertain significance (DICER1-related tumor predisposition; Global developmental delay)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-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)