D90G (p.Asp90Gly) variant of LDLR (Low-density lipoprotein receptor)
D90G (p.Asp90Gly) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypercholesterolemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D90G (p.Asp90Gly) variant details
- p.Asp90Gly
- rs771019366
- ClinGen CA042622
- ClinVar RCV000211676
- ClinVar RCV000844733
- Pathogenic
- Hypercholesterolemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hypercholesterolemia, familial, 1)
- EBI: Pathogenic (in FHCL1)
- UniProt: Pathogenic (in FHCL1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. (PMID 9259195)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)