G9S (p.Gly9Ser) variant of GRIN2D (O15399)
G9S (p.Gly9Ser) 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.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- rs2516061557
- ClinGen CA406688128
- ClinVar RCV002792079
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available