G13V (p.Gly13Val) variant of DICER1 (Endoribonuclease Dicer)
G13V (p.Gly13Val) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- rs1060503610
- ClinGen CA390890720
- ClinVar RCV001021392
- ClinVar RCV001054920
- Uncertain significance
- Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; DIC
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.35
- CADD 23.00
- PolyPhen-2 0.76
- SIFT 0.19
- ClinVar: Uncertain significance (Global developmental delay - lung cysts - overgrowth - Wilms tum)
- 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)