R122H (p.Arg122His) variant of NRXN2 (Neurexin-2)
R122H (p.Arg122His) in NRXN2 (Neurexin-2) 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 0.61 / 1. The record also includes population frequency data and structural context.
R122H (p.Arg122His) variant details
- p.Arg122His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.57
- MetaLR 0.55
- MetaSVM 0.14
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available