V38del (p.Val38del) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V38del (p.Val38del) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V38del (p.Val38del) variant details
- gnomAD 5-119456361-AGTT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 19.50
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Literature evidence available