A123T (p.Ala123Thr) variant of L1CAM (Neural cell adhesion molecule L1)
A123T (p.Ala123Thr) 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 Spastic paraplegia; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A123T (p.Ala123Thr) variant details
- p.Ala123Thr
- rs782752037
- ClinGen CA10554610
- cosmic curated COSV62827
- ClinVar RCV000867169
- Conflicting interpretations
- Spastic paraplegia; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.36
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Spastic paraplegia; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available