A39T (p.Ala39Thr) variant of NRXN2 (Neurexin-2)
A39T (p.Ala39Thr) in NRXN2 (Neurexin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.14
- MetaLR 0.23
- MetaSVM -0.75
- CADD 22.60
- PolyPhen-2 0.33
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available