L126V (p.Leu126Val) variant of NRXN2 (Neurexin-2)
L126V (p.Leu126Val) 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 0.66 / 1. The record also includes population frequency data and structural context.
L126V (p.Leu126Val) variant details
- p.Leu126Val
- rs370521049
- ClinGen CA223881825
- ClinVar RCV004229494
- 1000Genomes rs370521049
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.75
- MetaLR 0.80
- MetaSVM 0.79
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DAI population (allele frequency 0.062)
- Structural context available