I29S (p.Ile29Ser) variant of HMGCR (P04035)
I29S (p.Ile29Ser) in HMGCR (P04035) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I29S (p.Ile29Ser) variant details
- p.Ile29Ser
- gnomAD 5-75342687-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 28.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available