D263N (p.Asp263Asn) variant of LDLR (Low-density lipoprotein receptor)
D263N (p.Asp263Asn) 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 Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D263N (p.Asp263Asn) variant details
- p.Asp263Asn
- ExAC rs750900506
- gnomAD rs750900506
- Uncertain significance
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.69
- MetaLR 0.98
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available