R61K (p.Arg61Lys) variant of NRXN1 (Neurexin-1)
R61K (p.Arg61Lys) in NRXN1 (Neurexin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R61K (p.Arg61Lys) variant details
- p.Arg61Lys
- rs1669101718
- gnomAD 2-49926322-TCC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 0.67
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available