A48T (p.Ala48Thr) variant of NRXN1 (Neurexin-1)
A48T (p.Ala48Thr) in NRXN1 (Neurexin-1) 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 0.66 / 1. The record also includes population frequency data and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- rs1456330432
- cosmic curated COSV10606
- TOPMed rs1456330432
- gnomAD rs1456330432
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.59
- CADD 23.90
- PolyPhen-2 0.79
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available