N34H (p.Asn34His) variant of HSD17B3 (P37058)
N34H (p.Asn34His) in HSD17B3 (P37058) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N34H (p.Asn34His) variant details
- p.Asn34His
- TOPMed rs1338488980
- gnomAD rs1338488980
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.25
- MetaLR 0.28
- MetaSVM -0.85
- CADD 4.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available