A108T (p.Ala108Thr) variant of NRXN2 (Neurexin-2)
A108T (p.Ala108Thr) 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 0.35 / 1. The record also includes population frequency data and structural context.
A108T (p.Ala108Thr) variant details
- p.Ala108Thr
- TOPMed rs1250021653
- gnomAD rs1250021653
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.85
- CADD 23.50
- PolyPhen-2 0.17
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available