D104N (p.Asp104Asn) variant of LRP4 (O75096)
D104N (p.Asp104Asn) 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; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
D104N (p.Asp104Asn) variant details
- p.Asp104Asn
- rs2134865411
- ClinGen CA380290095
- ClinVar RCV002032264
- Ensembl rs2134865411
- Uncertain significance
- Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.10
- MetaLR 0.69
- MetaSVM 0.31
- PolyPhen-2 0.83
- SIFT 1.00
- MutPred 0.40
- ClinVar: Uncertain significance (Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital mya)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)