E1705V (p.Glu1705Val) variant of DICER1 (Endoribonuclease Dicer)
E1705V (p.Glu1705Val) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of DICER1-related tumor predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E1705V (p.Glu1705Val) variant details
- p.Glu1705Val
- rs1890101135
- ClinGen CA390865416
- cosmic curated COSV58616
- ClinVar RCV001200972
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (DICER1-related tumor predisposition)
- EBI: Pathogenic (in PPB)
- UniProt: Pathogenic (in PPB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)