S3S (p.Ser3Ser) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
S3S (p.Ser3Ser) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous 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.
S3S (p.Ser3Ser) variant details
- p.Ser3Ser
- gnomAD 5-119452584-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 15.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available