A4T (p.Ala4Thr) variant of L1CAM (Neural cell adhesion molecule L1)
A4T (p.Ala4Thr) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- ExAC rs782267074
- gnomAD rs782267074
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.09
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available