R86H (p.Arg86His) variant of LRP4 (O75096)
R86H (p.Arg86His) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital myasthenic syndrome 17; Sclerosteosis 2; Cenani-Lenz syndactyly syndr. 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.
R86H (p.Arg86His) variant details
- p.Arg86His
- rs138239756
- ClinGen CA5970564
- ClinVar RCV000643975
- ClinVar RCV003129960
- Conflicting interpretations
- Congenital myasthenic syndrome 17; Sclerosteosis 2; Cenani-Lenz syndactyly syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.29
- MetaLR 0.86
- MetaSVM 0.73
- PolyPhen-2 0.96
- SIFT 0.27
- MutPred 0.67
- ClinVar: Conflicting classifications of pathogenicity (Congenital myasthenic syndrome 17; Sclerosteosis 2; Cenani-Lenz)
- EBI: Likely benign
- UniProt: Likely benign
- 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)