V11V (p.Val11Val) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
V11V (p.Val11Val) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V11V (p.Val11Val) variant details
- p.Val11Val
- rs753527768
- gnomAD 5-119452608-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 16.10
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available