D111E (p.Asp111Glu) variant of HSD17B3 (P37058)
D111E (p.Asp111Glu) in HSD17B3 (P37058) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D111E (p.Asp111Glu) variant details
- p.Asp111Glu
- 1000Genomes rs35189151
- ESP rs35189151
- ExAC rs35189151
- TOPMed rs35189151
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.21
- MetaLR 0.51
- MetaSVM -0.25
- CADD 16.10
- PolyPhen-2 0.05
- SIFT 0.15
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available