A4V (p.Ala4Val) variant of L1CAM (Neural cell adhesion molecule L1)
A4V (p.Ala4Val) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- 1000Genomes rs201284179
- ExAC rs201284179
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.09
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available