V14G (p.Val14Gly) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V14G (p.Val14Gly) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V14G (p.Val14Gly) variant details
- p.Val14Gly
- gnomAD 5-119452612-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.257
- CADD 17.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available