A214V (p.Ala214Val) variant of LRP5 (O75197)
A214V (p.Ala214Val) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Worth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
A214V (p.Ala214Val) variant details
- p.Ala214Val
- rs121908672
- ClinGen CA118099
- ClinVar RCV000006664
- UniProt VAR 021811
- Pathogenic
- Worth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- MutPred 0.88
- ClinVar: Pathogenic (Worth disease)
- EBI: Pathogenic (in WENHY)
- UniProt: Pathogenic (in WENHY)
- Structural context available
- Cited in: Differential diagnosis and treatment of autosomal dominant osteosclerosis of the mandible. (PMID 11883972)
- Cited in: Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an… (PMID 12579474)