G158R (p.Gly158Arg) variant of LRP4 (O75096)
G158R (p.Gly158Arg) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G158R (p.Gly158Arg) variant details
- p.Gly158Arg
- rs193247849
- ClinGen CA5970485
- ClinVar RCV001972158
- 1000Genomes rs193247849
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.80
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)