D110G (p.Asp110Gly) variant of HSD17B3 (P37058)
D110G (p.Asp110Gly) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
D110G (p.Asp110Gly) variant details
- p.Asp110Gly
- rs200961609
- ClinGen CA5140450
- ClinVar RCV002937770
- ESP rs200961609
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.37
- MetaLR 0.42
- MetaSVM -0.49
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available