E31D (p.Glu31Asp) variant of LDLR (Low-density lipoprotein receptor)
E31D (p.Glu31Asp) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- rs535876665
- gnomAD 19-11090687-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 8.08
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available