G99S (p.Gly99Ser) variant of L1CAM (Neural cell adhesion molecule L1)
G99S (p.Gly99Ser) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G99S (p.Gly99Ser) variant details
- p.Gly99Ser
- ExAC rs781861107
- gnomAD rs781861107
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.32
- CADD 18.30
- PolyPhen-2 0.30
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available