T70M (p.Thr70Met) variant of L1CAM (Neural cell adhesion molecule L1)
T70M (p.Thr70Met) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T70M (p.Thr70Met) variant details
- p.Thr70Met
- cosmic curated COSV10064
- ExAC rs782407054
- gnomAD rs782407054
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.42
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available