T124M (p.Thr124Met) variant of NRXN2 (Neurexin-2)
T124M (p.Thr124Met) 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 0.73 / 1. The record also includes population frequency data and structural context.
T124M (p.Thr124Met) variant details
- p.Thr124Met
- rs776121419
- ClinGen CA6078719
- ClinVar RCV004493656
- ExAC rs776121419
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.77
- MetaLR 0.60
- MetaSVM 0.28
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available