F43S (p.Phe43Ser) variant of NRXN1 (Neurexin-1)
F43S (p.Phe43Ser) 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 0.75 / 1. The record also includes population frequency data and structural context.
F43S (p.Phe43Ser) variant details
- p.Phe43Ser
- rs2105334074
- ClinGen CA346824653
- ClinVar RCV002006334
- Ensembl rs2105334074
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.84
- CADD 28.50
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available