K137Q (p.Lys137Gln) variant of L1CAM (Neural cell adhesion molecule L1)
K137Q (p.Lys137Gln) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K137Q (p.Lys137Gln) variant details
- p.Lys137Gln
- rs1358848849
- ClinGen CA415137079
- ClinVar RCV003750392
- gnomAD rs1358848849
- Likely benign
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.20
- CADD 22.20
- PolyPhen-2 0.40
- SIFT 0.34
- ClinVar: Likely benign (Spastic paraplegia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available