A18P (p.Ala18Pro) variant of LDLR (Low-density lipoprotein receptor)
A18P (p.Ala18Pro) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
A18P (p.Ala18Pro) variant details
- p.Ala18Pro
- rs1172805138
- ClinGen CA404071765
- ClinVar RCV002247944
- gnomAD rs1172805138
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- AlphaMissense 0.16
- MetaLR 0.55
- MetaSVM -0.31
- PolyPhen-2 0.80
- SIFT 0.25
- MutPred 0.39
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available