T105A (p.Thr105Ala) variant of NRXN2 (Neurexin-2)
T105A (p.Thr105Ala) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar 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.
T105A (p.Thr105Ala) variant details
- p.Thr105Ala
- TOPMed rs1405074266
- gnomAD rs1405074266
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.27
- MetaLR 0.31
- MetaSVM -0.77
- CADD 22.50
- PolyPhen-2 0.07
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available