L41P (p.Leu41Pro) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
L41P (p.Leu41Pro) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- gnomAD 5-119471647-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.22
- MetaLR 0.23
- MetaSVM -0.82
- CADD 13.50
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available