L21I (p.Leu21Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L21I (p.Leu21Ile) 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.
L21I (p.Leu21Ile) variant details
- p.Leu21Ile
- gnomAD 5-119452811-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.16
- MetaLR 0.23
- MetaSVM -0.89
- CADD 14.40
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available