A55P (p.Ala55Pro) variant of DICER1 (Endoribonuclease Dicer)
A55P (p.Ala55Pro) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A55P (p.Ala55Pro) variant details
- p.Ala55Pro
- ExAC rs769164427
- gnomAD rs769164427
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.70
- CADD 27.00
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available