V36F (p.Val36Phe) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V36F (p.Val36Phe) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
V36F (p.Val36Phe) variant details
- p.Val36Phe
- cosmic curated COSV56338
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.94
- MetaSVM 1.08
- SIFT 0.22
- Structural context available