G65A (p.Gly65Ala) variant of NRXN1 (Neurexin-1)
G65A (p.Gly65Ala) 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 0.60 / 1. The record also includes structural context.
G65A (p.Gly65Ala) variant details
- p.Gly65Ala
- rs1670884089
- ClinGen CA346824496
- ClinVar RCV002045427
- Ensembl rs1670884089
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.57
- MetaLR 0.66
- MetaSVM 0.24
- PolyPhen-2 0.01
- SIFT 0.35
- MutPred 0.94
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available