R6P (p.Arg6Pro) variant of L1CAM (Neural cell adhesion molecule L1)
R6P (p.Arg6Pro) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- ExAC rs782609143
- gnomAD rs782609143
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.45
- CADD 22.30
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available