S100L (p.Ser100Leu) variant of LRP4 (O75096)
S100L (p.Ser100Leu) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Cenani-Lenz syndactyly syndrome; Sclerosteosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes population frequency data, published literature, and structural context.
S100L (p.Ser100Leu) variant details
- p.Ser100Leu
- rs762837686
- ClinGen CA5970556
- ClinVar RCV000531555
- ClinVar RCV002526152
- Uncertain significance
- Inborn genetic diseases; Cenani-Lenz syndactyly syndrome; Sclerosteosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.87
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Cenani-Lenz syndactyly syndrome; Sclero)
- 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)