E24K (p.Glu24Lys) variant of LRP4 (O75096)
E24K (p.Glu24Lys) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Congenital myasthenic syndrome 17. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- rs200465829
- ClinGen CA5970608
- ClinVar RCV001211955
- ClinVar RCV002267083
- Uncertain significance
- not specified; not provided; Congenital myasthenic syndrome 17
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.13
- MetaLR 0.45
- MetaSVM -0.53
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (not specified; not provided; Congenital myasthenic syndrome 17)
- 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)