K46I (p.Lys46Ile) variant of DICER1 (Endoribonuclease Dicer)
K46I (p.Lys46Ile) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K46I (p.Lys46Ile) variant details
- p.Lys46Ile
- rs1595468517
- ClinGen CA390890358
- ClinVar RCV003752001
- Uncertain significance
- DICER1-related tumor predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.28
- CADD 28.20
- PolyPhen-2 0.70
- SIFT 0.03
- ClinVar: Uncertain significance (DICER1-related tumor predisposition)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)