D150N (p.Asp150Asn) variant of LRP4 (O75096)
D150N (p.Asp150Asn) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D150N (p.Asp150Asn) variant details
- p.Asp150Asn
- rs200746048
- ClinGen CA5970489
- ClinVar RCV001338645
- 1000Genomes rs200746048
- Uncertain significance
- Congenital myasthenic syndrome 17; Sclerosteosis 2; Cenani-Lenz syndactyly syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.11
- MetaLR 0.70
- MetaSVM 0.34
- PolyPhen-2 0.73
- SIFT 0.34
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 17; Sclerosteosis 2; Cenani-Lenz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)