A24D (p.Ala24Asp) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A24D (p.Ala24Asp) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- gnomAD 5-119456327-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.70
- ESM-1b 0.63
- AlphaMissense 0.32
- MetaLR 0.65
- MetaSVM 0.20
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available