L27V (p.Leu27Val) variant of HMGCR (P04035)
L27V (p.Leu27Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- ESP rs367706109
- ExAC rs367706109
- TOPMed rs367706109
- gnomAD rs367706109
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.12
- CADD 18.10
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available