S153T (p.Ser153Thr) variant of L1CAM (Neural cell adhesion molecule L1)
S153T (p.Ser153Thr) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
S153T (p.Ser153Thr) variant details
- p.Ser153Thr
- rs2148499026
- ClinGen CA415136684
- ClinVar RCV001767818
- Ensembl rs2148499026
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 0.37
- MetaLR 0.43
- MetaSVM -0.59
- PolyPhen-2 0.97
- SIFT 0.02
- EVE 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available