G10C (p.Gly10Cys) variant of NRXN1 (Neurexin-1)
G10C (p.Gly10Cys) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- rs777530225
- ClinGen CA346824857
- ClinVar RCV000997144
- ExAC rs777530225
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.55
- CADD 25.60
- PolyPhen-2 0.61
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available