L805P (p.Leu805Pro) variant of DICER1 (Endoribonuclease Dicer)
L805P (p.Leu805Pro) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of DICER1-related tumor predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
L805P (p.Leu805Pro) variant details
- p.Leu805Pro
- rs1891644496
- ClinGen CA390882092
- ClinVar RCV001201003
- Ensembl rs1891644496
- Likely pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.52
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (DICER1-related tumor predisposition)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)