N39K (p.Asn39Lys) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N39K (p.Asn39Lys) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
N39K (p.Asn39Lys) variant details
- p.Asn39Lys
- gnomAD 5-119471645-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.94
- CADD 5.60
- SIFT 0.06
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Literature evidence available