M11V (p.Met11Val) variant of DICER1 (Endoribonuclease Dicer)
M11V (p.Met11Val) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of DICER1-related tumor predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M11V (p.Met11Val) variant details
- p.Met11Val
- rs2543389384
- ClinGen CA390890752
- ClinVar RCV003083909
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.29
- CADD 24.70
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)