L92W (p.Leu92Trp) variant of HMGCR (P04035)
L92W (p.Leu92Trp) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L92W (p.Leu92Trp) variant details
- p.Leu92Trp
- gnomAD 5-75343958-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available