S1344L (p.Ser1344Leu) variant of DICER1 (Endoribonuclease Dicer)
S1344L (p.Ser1344Leu) 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 0.83 / 1. The record also includes published literature and structural context.
S1344L (p.Ser1344Leu) variant details
- p.Ser1344Leu
- rs1566766572
- ClinGen CA390872917
- NCI-TCGA Cosmic COSV5861
- cosmic curated COSV58615
- Likely pathogenic
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.70
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (DICER1-related tumor predisposition)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)