Q33R (p.Gln33Arg) variant of LDLR (Low-density lipoprotein receptor)
Q33R (p.Gln33Arg) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- rs759003630
- gnomAD 19-11090635-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 10.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available