D25E (p.Asp25Glu) variant of LDLR (Low-density lipoprotein receptor)
D25E (p.Asp25Glu) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- rs2077076517
- gnomAD 19-11090678-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- CADD 8.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available