C11S (p.Cys11Ser) variant of NRXN1 (Neurexin-1)
C11S (p.Cys11Ser) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
C11S (p.Cys11Ser) variant details
- p.Cys11Ser
- gnomAD 2-49973981-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 19.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available