C24S (p.Cys24Ser) variant of GRIN2D (O15399)
C24S (p.Cys24Ser) in GRIN2D (O15399) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of GRIN2D-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C24S (p.Cys24Ser) variant details
- p.Cys24Ser
- rs1600967287
- ClinGen CA406688218
- ClinVar RCV003939333
- Ensembl rs1600967287
- Likely benign
- GRIN2D-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.78
- CADD 22.70
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Likely benign (GRIN2D-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available