P187L (p.Pro187Leu) variant of LRP4 (O75096)
P187L (p.Pro187Leu) 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; Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
P187L (p.Pro187Leu) variant details
- p.Pro187Leu
- rs2134862345
- ClinGen CA380289394
- ClinVar RCV002295507
- Ensembl rs2134862345
- Uncertain significance
- Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.07
- MetaLR 0.61
- MetaSVM -0.04
- PolyPhen-2 0.00
- SIFT 0.11
- MutPred 0.58
- ClinVar: Uncertain significance (Sclerosteosis 2; Congenital myasthenic syndrome 17; Cenani-Lenz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)