T70K (p.Thr70Lys) variant of L1CAM (Neural cell adhesion molecule L1)
T70K (p.Thr70Lys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T70K (p.Thr70Lys) variant details
- p.Thr70Lys
- ExAC rs782407054
- gnomAD rs782407054
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.24
- CADD 21.80
- PolyPhen-2 0.56
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available