I43V (p.Ile43Val) variant of HMGCR (P04035)
I43V (p.Ile43Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- ExAC rs773624826
- gnomAD rs773624826
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.03
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.69
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available