F80L (p.Phe80Leu) variant of HMGCR (P04035)
F80L (p.Phe80Leu) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
F80L (p.Phe80Leu) variant details
- p.Phe80Leu
- gnomAD 5-75343925-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.84
- CADD 23.60
- PolyPhen-2 0.42
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available