A30V (p.Ala30Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A30V (p.Ala30Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 5-119456345-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 14.00
- PolyPhen-2 0.79
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available