V12I (p.Val12Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V12I (p.Val12Ile) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- gnomAD 5-119452609-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 18.80
- PolyPhen-2 0.88
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available