D56E (p.Asp56Glu) variant of HMGCR (P04035)
D56E (p.Asp56Glu) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D56E (p.Asp56Glu) variant details
- p.Asp56Glu
- ExAC rs765808919
- gnomAD rs765808919
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.24
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available