Q79H (p.Gln79His) variant of HMGCR (P04035)
Q79H (p.Gln79His) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q79H (p.Gln79His) variant details
- p.Gln79His
- gnomAD 5-75343924-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.77
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available