I43I (p.Ile43Ile) variant of HMGCR (P04035)
I43I (p.Ile43Ile) in HMGCR (P04035) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I43I (p.Ile43Ile) variant details
- p.Ile43Ile
- rs1760052965
- gnomAD 5-75342734-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 13.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available