T98A (p.Thr98Ala) variant of L1CAM (Neural cell adhesion molecule L1)
T98A (p.Thr98Ala) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
T98A (p.Thr98Ala) variant details
- p.Thr98Ala
- rs2148500068
- ClinGen CA415138242
- ClinVar RCV001844497
- Ensembl rs2148500068
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.18
- MetaLR 0.26
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.14
- EVE 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available