D172A (p.Asp172Ala) variant of LDLR (Low-density lipoprotein receptor)
D172A (p.Asp172Ala) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypercholesterolemia; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
D172A (p.Asp172Ala) variant details
- p.Asp172Ala
- rs879254555
- ClinGen CA404076938
- ClinVar RCV003283512
- Likely pathogenic
- Familial hypercholesterolemia; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Familial hypercholesterolemia; Cardiovascular phenotype)
- EBI: Likely pathogenic (in FHCL1)
- UniProt: Likely pathogenic (in FHCL1)
- Structural context available