I73V (p.Ile73Val) variant of HMGCR (P04035)
I73V (p.Ile73Val) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I73V (p.Ile73Val) variant details
- p.Ile73Val
- ExAC rs753282492
- gnomAD rs753282492
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.35
- CADD 20.60
- PolyPhen-2 0.04
- SIFT 0.58
- Most common in the South Asian population (allele frequency 5.9e-05)
- Structural context available