R42T (p.Arg42Thr) variant of NRXN1 (Neurexin-1)
R42T (p.Arg42Thr) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R42T (p.Arg42Thr) variant details
- p.Arg42Thr
- gnomAD 2-49926360-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 1.56
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available