G65D (p.Gly65Asp) variant of NRXN1 (Neurexin-1)
G65D (p.Gly65Asp) in NRXN1 (Neurexin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G65D (p.Gly65Asp) variant details
- p.Gly65Asp
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10127
- Ensembl rs1670884089
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.84
- AlphaMissense 0.57
- MetaLR 0.66
- MetaSVM 0.24
- CADD 26.10
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available