R61E (p.Arg61Glu) variant of NRXN1 (Neurexin-1)
R61E (p.Arg61Glu) in NRXN1 (Neurexin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R61E (p.Arg61Glu) variant details
- p.Arg61Glu
- gnomAD 2-49926330-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0819
- CADD 0.17
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available