R154H (p.Arg154His) variant of LRP4 (O75096)
R154H (p.Arg154His) 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; Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R154H (p.Arg154His) variant details
- p.Arg154His
- rs748199837
- ClinGen CA5970487
- ClinVar RCV001965122
- ExAC rs748199837
- Uncertain significance
- Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 0.11
- MetaLR 0.88
- MetaSVM 0.88
- PolyPhen-2 0.12
- SIFT 0.28
- MutPred 0.53
- ClinVar: Uncertain significance (Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)