N39D (p.Asn39Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N39D (p.Asn39Asp) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
N39D (p.Asn39Asp) variant details
- p.Asn39Asp
- gnomAD 5-119471652-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.17
- MetaLR 0.19
- MetaSVM -0.91
- CADD 5.65
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available