V38I (p.Val38Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V38I (p.Val38Ile) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V38I (p.Val38Ile) variant details
- p.Val38Ile
- rs778708979
- gnomAD 5-119456358-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.15
- MetaSVM -0.94
- CADD 5.80
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available