N47N (p.Asn47Asn) variant of NRXN1 (Neurexin-1)
N47N (p.Asn47Asn) in NRXN1 (Neurexin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
N47N (p.Asn47Asn) variant details
- p.Asn47Asn
- rs754080263
- gnomAD 2-49973974-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 18.80
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Literature evidence available