E28G (p.Glu28Gly) variant of LDLR (Low-density lipoprotein receptor)
E28G (p.Glu28Gly) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- gnomAD 19-11100238-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- MetaLR 0.50
- MetaSVM -0.39
- CADD 6.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available