T28S (p.Thr28Ser) variant of HMGCR (P04035)
T28S (p.Thr28Ser) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T28S (p.Thr28Ser) variant details
- p.Thr28Ser
- gnomAD 5-75342686-G-GTCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 29.90
- Population evidence available
- Structural context available
- Literature evidence available