D40N (p.Asp40Asn) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
D40N (p.Asp40Asn) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- Ensembl rs34959311
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.82
- MetaSVM 0.83
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available