H38R (p.His38Arg) variant of DICER1 (Endoribonuclease Dicer)
H38R (p.His38Arg) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H38R (p.His38Arg) variant details
- p.His38Arg
- rs1595468669
- ClinGen CA390890444
- ClinVar RCV001009987
- ClinVar RCV001322317
- Uncertain significance
- Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; DIC
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.29
- CADD 24.50
- PolyPhen-2 0.65
- 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 East Asian population (allele frequency 2.5e-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)