R29T (p.Arg29Thr) variant of LDLR (Low-density lipoprotein receptor)
R29T (p.Arg29Thr) 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 Familial hypercholesterolemia; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R29T (p.Arg29Thr) variant details
- p.Arg29Thr
- TOPMed rs1193876749
- Uncertain significance
- Familial hypercholesterolemia; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 16.90
- PolyPhen-2 0.20
- SIFT 0.40
- ClinVar: Uncertain significance (Familial hypercholesterolemia; not provided; Cardiovascular phen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available