N47S (p.Asn47Ser) variant of NRXN1 (Neurexin-1)
N47S (p.Asn47Ser) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
N47S (p.Asn47Ser) variant details
- p.Asn47Ser
- gnomAD 2-49973975-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 20.30
- SIFT 0.90
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available