G10D (p.Gly10Asp) variant of NRXN1 (Neurexin-1)
G10D (p.Gly10Asp) 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 0.60 / 1. The record also includes population frequency data and structural context.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- ExAC rs757927343
- TOPMed rs757927343
- gnomAD rs757927343
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.50
- CADD 24.50
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.1e-05)
- Structural context available