G5C (p.Gly5Cys) variant of GRIN2D (O15399)
G5C (p.Gly5Cys) in GRIN2D (O15399) 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 0.29 / 1. The record also includes population frequency data and structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- rs2147434057
- ClinGen CA406688106
- ClinVar RCV001981465
- Ensembl rs2147434057
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.16
- ESM-1b 0.15
- AlphaMissense 0.27
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available