Q33Q (p.Gln33Gln) variant of LDLR (Low-density lipoprotein receptor)
Q33Q (p.Gln33Gln) in LDLR (Low-density lipoprotein receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q33Q (p.Gln33Gln) variant details
- p.Gln33Gln
- gnomAD 19-11100254-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 9.71
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available