T105M (p.Thr105Met) variant of NRXN2 (Neurexin-2)
T105M (p.Thr105Met) 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 0.52 / 1. The record also includes population frequency data and structural context.
T105M (p.Thr105Met) variant details
- p.Thr105Met
- TOPMed rs1337021462
- gnomAD rs1337021462
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.43
- MetaLR 0.37
- MetaSVM -0.28
- CADD 24.00
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available