S52T (p.Ser52Thr) variant of NRXN1 (Neurexin-1)
S52T (p.Ser52Thr) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar 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.
S52T (p.Ser52Thr) variant details
- p.Ser52Thr
- ExAC rs201059384
- gnomAD rs201059384
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.54
- CADD 23.30
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available