W50* (p.Trp50Ter) variant of HSD17B3 (P37058)
W50* (p.Trp50Ter) in HSD17B3 (P37058) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W50* (p.Trp50Ter) variant details
- p.Trp50Ter
- ExAC rs752426255
- gnomAD rs752426255
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available