H115R (p.His115Arg) variant of HSD17B3 (P37058)
H115R (p.His115Arg) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H115R (p.His115Arg) variant details
- p.His115Arg
- TOPMed rs1365962179
- gnomAD rs1365962179
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.21
- MetaLR 0.24
- MetaSVM -0.77
- CADD 6.46
- PolyPhen-2 0.07
- SIFT 0.42
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available