D1713N (p.Asp1713Asn) variant of DICER1 (Endoribonuclease Dicer)
D1713N (p.Asp1713Asn) 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 published literature and structural context.
D1713N (p.Asp1713Asn) variant details
- p.Asp1713Asn
- rs1890097519
- ClinGen CA390865368
- cosmic curated COSV10943
- ClinVar RCV001201030
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- 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)