V11A (p.Val11Ala) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V11A (p.Val11Ala) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- cosmic curated COSV56335
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.38
- SIFT 0.04
- Structural context available