P35R (p.Pro35Arg) variant of NRXN2 (Neurexin-2)
P35R (p.Pro35Arg) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- rs998690305
- ClinGen CA223881885
- ClinVar RCV004070007
- TOPMed rs998690305
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.26
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.01
- CADD 21.50
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available