G28D (p.Gly28Asp) variant of LRP4 (O75096)
G28D (p.Gly28Asp) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- rs1183268699
- ClinGen CA380291330
- ClinVar RCV001965012
- ClinVar RCV003289270
- Uncertain significance
- Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.28
- MetaLR 0.80
- MetaSVM 0.55
- PolyPhen-2 0.89
- SIFT 0.13
- MutPred 0.57
- 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)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)