D263Y (p.Asp263Tyr) variant of LDLR (Low-density lipoprotein receptor)
D263Y (p.Asp263Tyr) 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 Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D263Y (p.Asp263Tyr) variant details
- p.Asp263Tyr
- rs750900506
- ClinGen CA404080066
- ClinVar RCV003582616
- Likely pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.69
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.85
- ClinVar: Likely pathogenic (Familial hypercholesterolemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)