H115P (p.His115Pro) variant of HSD17B3 (P37058)
H115P (p.His115Pro) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H115P (p.His115Pro) variant details
- p.His115Pro
- TOPMed rs1365962179
- gnomAD rs1365962179
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.26
- MetaLR 0.37
- MetaSVM -0.72
- CADD 9.26
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available