T15T (p.Thr15Thr) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
T15T (p.Thr15Thr) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T15T (p.Thr15Thr) variant details
- p.Thr15Thr
- rs751737033
- gnomAD 5-119452620-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 16.70
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available