S52R (p.Ser52Arg) variant of NRXN1 (Neurexin-1)
S52R (p.Ser52Arg) 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 0.51 / 1. The record also includes population frequency data and structural context.
S52R (p.Ser52Arg) variant details
- p.Ser52Arg
- NCI-TCGA Cosmic COSV6803
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.61
- CADD 24.30
- PolyPhen-2 0.65
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available