V11I (p.Val11Ile) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V11I (p.Val11Ile) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V11I (p.Val11Ile) variant details
- p.Val11Ile
- rs937301893
- gnomAD 5-119452757-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.13
- MetaLR 0.18
- MetaSVM -0.94
- CADD 13.60
- SIFT 0.34
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Literature evidence available