D139H (p.Asp139His) variant of LDLR (Low-density lipoprotein receptor)
D139H (p.Asp139His) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypercholesterolemia; Cardiovascular phenotype; Hypercholesterolemia, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
D139H (p.Asp139His) variant details
- p.Asp139His
- rs879254517
- ClinGen CA10584908
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52943
- Pathogenic/Likely pathogenic
- Familial hypercholesterolemia; Cardiovascular phenotype; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Familial hypercholesterolemia; Cardiovascular phenotype; Hyperch)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Structural context available
- Cited in: Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial… (PMID 21418584)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)