R113H (p.Arg113His) variant of L1CAM (Neural cell adhesion molecule L1)
R113H (p.Arg113His) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of History of neurodevelopmental disorder; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R113H (p.Arg113His) variant details
- p.Arg113His
- rs781908326
- ClinGen CA10554614
- NCI-TCGA Cosmic COSV6282
- cosmic curated COSV62827
- Conflicting interpretations
- History of neurodevelopmental disorder; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.21
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (History of neurodevelopmental disorder; Spastic paraplegia)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available