L126M (p.Leu126Met) variant of NRXN2 (Neurexin-2)
L126M (p.Leu126Met) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L126M (p.Leu126Met) variant details
- p.Leu126Met
- rs370521049
- ClinGen CA6078718
- ClinVar RCV000503194
- 1000Genomes rs370521049
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.69
- MetaLR 0.77
- MetaSVM 0.70
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available