C50Y (p.Cys50Tyr) variant of NRXN1 (Neurexin-1)
C50Y (p.Cys50Tyr) in NRXN1 (Neurexin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C50Y (p.Cys50Tyr) variant details
- p.Cys50Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.52
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available