L92L (p.Leu92Leu) variant of HMGCR (P04035)
L92L (p.Leu92Leu) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L92L (p.Leu92Leu) variant details
- p.Leu92Leu
- gnomAD 5-75343963-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 14.60
- Population evidence available
- Structural context available
- Literature evidence available