A48V (p.Ala48Val) variant of NRXN1 (Neurexin-1)
A48V (p.Ala48Val) in NRXN1 (Neurexin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A48V (p.Ala48Val) variant details
- p.Ala48Val
- NCI-TCGA TCGA novel
- TOPMed rs1202743952
- gnomAD rs1202743952
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 18.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available