E49G (p.Glu49Gly) variant of HMGCR (P04035)
E49G (p.Glu49Gly) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E49G (p.Glu49Gly) variant details
- p.Glu49Gly
- gnomAD 5-75342751-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available