L35V (p.Leu35Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L35V (p.Leu35Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L35V (p.Leu35Val) variant details
- p.Leu35Val
- TOPMed rs1235253926
- gnomAD rs1235253926
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.30
- MetaSVM -0.43
- CADD 24.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available