P3L (p.Pro3Leu) variant of LDLR (Low-density lipoprotein receptor)
P3L (p.Pro3Leu) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- gnomAD 19-11089556-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 14.40
- PolyPhen-2 0.08
- SIFT 0.57
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available