A24V (p.Ala24Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A24V (p.Ala24Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD 5-119456327-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 12.00
- PolyPhen-2 0.03
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available