S55T (p.Ser55Thr) variant of NRXN1 (Neurexin-1)
S55T (p.Ser55Thr) 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 0.62 / 1. The record also includes population frequency data and structural context.
S55T (p.Ser55Thr) variant details
- p.Ser55Thr
- rs2105333752
- ClinGen CA346824561
- ClinVar RCV001964745
- Ensembl rs2105333752
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.61
- CADD 22.80
- PolyPhen-2 0.27
- SIFT 0.23
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available