R44H (p.Arg44His) variant of L1CAM (Neural cell adhesion molecule L1)
R44H (p.Arg44His) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs367644081
- ClinGen CA10554657
- ClinVar RCV003840859
- ESP rs367644081
- Benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.38
- CADD 23.60
- PolyPhen-2 0.13
- SIFT 0.04
- ClinVar: Benign (Spastic paraplegia)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available