T38M (p.Thr38Met) variant of L1CAM (Neural cell adhesion molecule L1)
T38M (p.Thr38Met) 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; not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T38M (p.Thr38Met) variant details
- p.Thr38Met
- rs201151358
- ClinGen CA10554662
- ClinVar RCV000524706
- ClinVar RCV001653889
- Benign/Likely benign
- Spastic paraplegia; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.29
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Benign/Likely benign (Spastic paraplegia; not specified; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. (PMID 19846429)
- Cited in: L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like… (PMID 26891472)