I29I (p.Ile29Ile) variant of HMGCR (P04035)
I29I (p.Ile29Ile) in HMGCR (P04035) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I29I (p.Ile29Ile) variant details
- p.Ile29Ile
- rs1365225685
- gnomAD 5-75342692-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 13.30
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available