C746Y (p.Cys746Tyr) variant of GRIN2B (Q13224)
C746Y (p.Cys746Tyr) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C746Y (p.Cys746Tyr) variant details
- p.Cys746Tyr
- rs1948686092
- ClinGen CA383998221
- ClinVar RCV001265386
- Ensembl rs1948686092
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available