G87R (p.Gly87Arg) variant of HMGCR (P04035)
G87R (p.Gly87Arg) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G87R (p.Gly87Arg) variant details
- p.Gly87Arg
- gnomAD 5-75343946-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.87
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available