D57H (p.Asp57His) variant of DICER1 (Endoribonuclease Dicer)
D57H (p.Asp57His) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D57H (p.Asp57His) variant details
- p.Asp57His
- 1000Genomes rs570871959
- ExAC rs570871959
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.41
- CADD 26.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available