G28C (p.Gly28Cys) variant of NRXN1 (Neurexin-1)
G28C (p.Gly28Cys) 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 0.41 / 1. The record also includes population frequency data and structural context.
G28C (p.Gly28Cys) variant details
- p.Gly28Cys
- rs200709052
- ClinGen CA48054944
- ClinVar RCV002294782
- Ensembl rs200709052
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.86
- SIFT 0.13
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance (in dbSNP:rs199598542)
- UniProt: Uncertain significance (in dbSNP:rs199598542)
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available