H142R (p.His142Arg) variant of HSD17B3 (P37058)
H142R (p.His142Arg) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H142R (p.His142Arg) variant details
- p.His142Arg
- gnomAD rs1353496108
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.41
- MetaLR 0.29
- MetaSVM -0.65
- CADD 0.29
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available