A30S (p.Ala30Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
A30S (p.Ala30Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 5-119456344-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.53
- MetaSVM 0.11
- CADD 26.10
- Population evidence available
- Structural context available
- Literature evidence available