S52Y (p.Ser52Tyr) variant of NRXN1 (Neurexin-1)
S52Y (p.Ser52Tyr) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S52Y (p.Ser52Tyr) variant details
- p.Ser52Tyr
- rs2104085266
- gnomAD 2-49926363-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.71
- Population evidence available
- Structural context available
- Literature evidence available