F29L (p.Phe29Leu) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
F29L (p.Phe29Leu) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
F29L (p.Phe29Leu) variant details
- p.Phe29Leu
- ExAC rs780598694
- gnomAD rs780598694
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.17
- MetaSVM -0.70
- CADD 25.60
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available