V14A (p.Val14Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V14A (p.Val14Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
V14A (p.Val14Ala) variant details
- p.Val14Ala
- ExAC rs764378958
- gnomAD rs764378958
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- ESM-1b 1.00
- AlphaMissense 0.89
- Structural context available