V14I (p.Val14Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V14I (p.Val14Ile) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- cosmic curated COSV56339
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.10
- SIFT 0.27
- Structural context available