Q33H (p.Gln33His) variant of DICER1 (Endoribonuclease Dicer)
Q33H (p.Gln33His) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q33H (p.Gln33His) variant details
- p.Gln33His
- ExAC rs773456851
- TOPMed rs773456851
- gnomAD rs773456851
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.30
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available