A18A (p.Ala18Ala) variant of LDLR (Low-density lipoprotein receptor)
A18A (p.Ala18Ala) in LDLR (Low-density lipoprotein receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD 19-11089602-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0937
- CADD 1.85
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available