P106L (p.Pro106Leu) variant of LRP4 (O75096)
P106L (p.Pro106Leu) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome 17; Sclerosteosi. 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.
P106L (p.Pro106Leu) variant details
- p.Pro106Leu
- rs556889686
- ClinGen CA5970533
- ClinVar RCV001228404
- ClinVar RCV002563700
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome 17; Sclerosteosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 0.12
- MetaLR 0.65
- MetaSVM 0.30
- PolyPhen-2 0.91
- SIFT 0.10
- ClinVar: Uncertain significance (Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)