R8C (p.Arg8Cys) variant of NRXN1 (Neurexin-1)
R8C (p.Arg8Cys) 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 0.38 / 1. The record also includes population frequency data and structural context.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.20
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available