E33D (p.Glu33Asp) variant of L1CAM (Neural cell adhesion molecule L1)
E33D (p.Glu33Asp) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Spastic paraplegia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- rs201990980
- ClinGen CA10554664
- ClinVar RCV002381944
- ClinVar RCV003586231
- Benign/Likely benign
- Spastic paraplegia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.23
- CADD 19.90
- PolyPhen-2 0.11
- SIFT 0.04
- ClinVar: Benign/Likely benign (Spastic paraplegia; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)