H77R (p.His77Arg) variant of LRP4 (O75096)
H77R (p.His77Arg) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H77R (p.His77Arg) variant details
- p.His77Arg
- rs780980400
- ClinGen CA5970569
- ClinVar RCV002913604
- ClinVar RCV003167925
- Uncertain significance
- Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- AlphaMissense 0.08
- MetaLR 0.55
- MetaSVM 0.14
- PolyPhen-2 0.86
- SIFT 0.49
- MutPred 0.52
- ClinVar: Uncertain significance (Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital mya)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)