V38L (p.Val38Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V38L (p.Val38Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- gnomAD 5-119456368-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.64
- MetaSVM 0.42
- CADD 33.00
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Literature evidence available