V11F (p.Val11Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V11F (p.Val11Phe) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V11F (p.Val11Phe) variant details
- p.Val11Phe
- gnomAD 5-119452757-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.11
- MetaLR 0.21
- MetaSVM -0.89
- CADD 15.90
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available