V38A (p.Val38Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V38A (p.Val38Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V38A (p.Val38Ala) variant details
- p.Val38Ala
- Ensembl rs1748302295
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.72
- MetaSVM 0.43
- CADD 23.90
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available