D1713A (p.Asp1713Ala) variant of DICER1 (Endoribonuclease Dicer)
D1713A (p.Asp1713Ala) 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 0.86 / 1. The record also includes published literature and structural context.
D1713A (p.Asp1713Ala) variant details
- p.Asp1713Ala
- rs1595331224
- ClinGen CA390865364
- cosmic curated COSV58620
- ClinVar RCV001201031
- Pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.84
- 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)