D175E (p.Asp175Glu) variant of LRP4 (O75096)
D175E (p.Asp175Glu) 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; Cenani-Lenz syndactyly syndrome; Sclerosteosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
D175E (p.Asp175Glu) variant details
- p.Asp175Glu
- rs757433016
- ClinGen CA221654895
- ClinVar RCV003089294
- Ensembl rs757433016
- Uncertain significance
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.75
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)