E49Q (p.Glu49Gln) variant of HMGCR (P04035)
E49Q (p.Glu49Gln) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E49Q (p.Glu49Gln) variant details
- p.Glu49Gln
- gnomAD 5-75342750-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.38
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available