W50* (p.Trp50Ter) variant of HMGCS2 (P54868)
W50* (p.Trp50Ter) in HMGCS2 (P54868) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
W50* (p.Trp50Ter) variant details
- p.Trp50Ter
- Ensembl rs866803752
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.818
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available