I37V (p.Ile37Val) variant of DICER1 (Endoribonuclease Dicer)
I37V (p.Ile37Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- rs772381832
- ClinGen CA390890454
- ClinVar RCV001319673
- ExAC rs772381832
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.26
- CADD 23.50
- PolyPhen-2 0.89
- SIFT 0.27
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)