A501V (p.Ala501Val) variant of LDLR (Low-density lipoprotein receptor)
A501V (p.Ala501Val) 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 Cardiovascular phenotype; Familial hypercholesterolemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A501V (p.Ala501Val) variant details
- p.Ala501Val
- rs755667663
- ClinGen CA034573
- NCI-TCGA Cosmic COSV5294
- cosmic curated COSV52944
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Familial hypercholesterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.55
- MetaLR 0.78
- MetaSVM 0.74
- CADD 23.70
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Familial hypercholesterolemia; not pro)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)