V36I (p.Val36Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V36I (p.Val36Ile) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- TOPMed rs1210011520
- gnomAD rs1210011520
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.80
- MetaSVM 0.71
- CADD 23.40
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available