K140R (p.Lys140Arg) variant of L1CAM (Neural cell adhesion molecule L1)
K140R (p.Lys140Arg) in L1CAM (Neural cell adhesion molecule L1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K140R (p.Lys140Arg) variant details
- p.Lys140Arg
- gnomAD rs1557093020
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.60
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available