T96S (p.Thr96Ser) variant of L1CAM (Neural cell adhesion molecule L1)
T96S (p.Thr96Ser) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T96S (p.Thr96Ser) variant details
- p.Thr96Ser
- ESP rs369322647
- ExAC rs369322647
- TOPMed rs369322647
- gnomAD rs369322647
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.04
- CADD 12.70
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available