S62R (p.Ser62Arg) variant of NRXN1 (Neurexin-1)
S62R (p.Ser62Arg) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- rs1186547259
- ClinGen CA346824507
- ClinVar RCV002024512
- TOPMed rs1186547259
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.35
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available