L21F (p.Leu21Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L21F (p.Leu21Phe) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- rs1180156034
- gnomAD 5-119452811-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.15
- MetaLR 0.23
- MetaSVM -0.87
- CADD 15.40
- SIFT 0.73
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available