A28V (p.Ala28Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A28V (p.Ala28Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- gnomAD 5-119456339-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 13.10
- PolyPhen-2 0.33
- SIFT 0.48
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available