G38S (p.Gly38Ser) variant of NRXN1 (Neurexin-1)
G38S (p.Gly38Ser) 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 0.45 / 1. The record also includes population frequency data and structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- rs759779535
- ClinGen CA1655558
- ClinVar RCV003032170
- ExAC rs759779535
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.25
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available