K50* (p.Lys50Ter) variant of HSD17B4 (Peroxisomal multifunctional enzyme type 2)
K50* (p.Lys50Ter) in HSD17B4 (Peroxisomal multifunctional enzyme type 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K50* (p.Lys50Ter) variant details
- p.Lys50Ter
- rs532183192
- gnomAD 5-119471667-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 35.00
- SIFT 0.65
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Literature evidence available