D1709V (p.Asp1709Val) variant of DICER1 (Endoribonuclease Dicer)
D1709V (p.Asp1709Val) 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 0.94 / 1. The record also includes published literature and structural context.
D1709V (p.Asp1709Val) variant details
- p.Asp1709Val
- rs1555366979
- ClinGen CA390865391
- cosmic curated COSV58625
- ClinVar RCV001201026
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (DICER1-related tumor predisposition)
- EBI: Pathogenic (in GLOW)
- UniProt: Pathogenic (in GLOW)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)