Q81R (p.Gln81Arg) variant of HMGCR (P04035)
Q81R (p.Gln81Arg) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q81R (p.Gln81Arg) variant details
- p.Gln81Arg
- gnomAD 5-75343929-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.34
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available