L21V (p.Leu21Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L21V (p.Leu21Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- gnomAD 5-119456317-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.68
- MetaSVM 0.09
- CADD 15.40
- Population evidence available
- Structural context available
- Literature evidence available