P107L (p.Pro107Leu) variant of LRP4 (O75096)
P107L (p.Pro107Leu) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P107L (p.Pro107Leu) variant details
- p.Pro107Leu
- rs2134864767
- ClinGen CA380290004
- ClinVar RCV001893290
- Ensembl rs2134864767
- Uncertain significance
- Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.11
- MetaLR 0.63
- MetaSVM 0.16
- PolyPhen-2 0.70
- SIFT 0.14
- MutPred 0.38
- 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)