G38D (p.Gly38Asp) variant of NRXN1 (Neurexin-1)
G38D (p.Gly38Asp) 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 0.56 / 1. The record also includes population frequency data and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- rs1553517468
- ClinGen CA346824686
- ClinVar RCV000649739
- Ensembl rs1553517468
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.55
- CADD 25.00
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available