N39T (p.Asn39Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N39T (p.Asn39Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
N39T (p.Asn39Thr) variant details
- p.Asn39Thr
- gnomAD 5-119471654-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available