V25M (p.Val25Met) variant of HMGCR (P04035)
V25M (p.Val25Met) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V25M (p.Val25Met) variant details
- p.Val25Met
- TOPMed rs1218851648
- gnomAD rs1218851648
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.16
- CADD 23.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available