L18M (p.Leu18Met) variant of NRXN1 (Neurexin-1)
L18M (p.Leu18Met) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- Ensembl rs199975231
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.52
- CADD 23.50
- PolyPhen-2 0.27
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available