N39H (p.Asn39His) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N39H (p.Asn39His) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
N39H (p.Asn39His) variant details
- p.Asn39His
- gnomAD rs1748302526
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.70
- MetaSVM 0.56
- CADD 26.20
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available