A28T (p.Ala28Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A28T (p.Ala28Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- cosmic curated COSV10608
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.52
- MetaSVM -0.28
- SIFT 0.82
- Structural context available