P183S (p.Pro183Ser) variant of LRP4 (O75096)
P183S (p.Pro183Ser) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P183S (p.Pro183Ser) variant details
- p.Pro183Ser
- rs765567296
- ClinGen CA5970471
- ClinVar RCV001988321
- ExAC rs765567296
- Uncertain significance
- Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.07
- MetaLR 0.69
- MetaSVM 0.34
- PolyPhen-2 0.13
- SIFT 0.37
- MutPred 0.41
- ClinVar: Uncertain significance (Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital mya)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)