P3H (p.Pro3His) variant of LDLR (Low-density lipoprotein receptor)
P3H (p.Pro3His) 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.
P3H (p.Pro3His) variant details
- p.Pro3His
- rs1259779740
- gnomAD 19-11090608-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0724
- CADD 3.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available