N39S (p.Asn39Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N39S (p.Asn39Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- gnomAD rs1274306053
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.46
- MetaLR 0.64
- MetaSVM 0.46
- CADD 26.60
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available