N39Y (p.Asn39Tyr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
N39Y (p.Asn39Tyr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N39Y (p.Asn39Tyr) variant details
- p.Asn39Tyr
- gnomAD 5-119471643-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.25
- MetaLR 0.21
- MetaSVM -0.86
- CADD 9.99
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available