S10I (p.Ser10Ile) variant of DICER1 (Endoribonuclease Dicer)
S10I (p.Ser10Ile) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; DIC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S10I (p.Ser10Ile) variant details
- p.Ser10Ile
- rs1595469164
- ClinGen CA390890760
- ClinVar RCV001017900
- ClinVar RCV001226700
- Uncertain significance
- Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; DIC
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Global developmental delay - lung cysts - overgrowth - Wilms tum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 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)