R71K (p.Arg71Lys) variant of L1CAM (Neural cell adhesion molecule L1)
R71K (p.Arg71Lys) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R71K (p.Arg71Lys) variant details
- p.Arg71Lys
- ExAC rs782163286
- gnomAD rs782163286
- Missense
- Variant Prioritization Score for Impact Estimate 0.0998
- REVEL 0.02
- CADD 3.04
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available