P3R (p.Pro3Arg) variant of LDLR (Low-density lipoprotein receptor)
P3R (p.Pro3Arg) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
P3R (p.Pro3Arg) variant details
- p.Pro3Arg
- rs1259779740
- gnomAD 19-11090608-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0741
- CADD 4.16
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available