R44C (p.Arg44Cys) variant of L1CAM (Neural cell adhesion molecule L1)
R44C (p.Arg44Cys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs370782270
- ClinGen CA10554658
- ClinVar RCV001240369
- ClinVar RCV002379917
- Uncertain significance
- Inborn genetic diseases; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.62
- CADD 28.50
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)