R6R (p.Arg6Arg) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
R6R (p.Arg6Arg) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R6R (p.Arg6Arg) variant details
- p.Arg6Arg
- rs1480283283
- gnomAD 5-119452593-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 14.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available