M1I (p.Met1Ile) variant of GRIN2D (O15399)
M1I (p.Met1Ile) 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 0.47 / 1. The record also includes population frequency data and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1970668133
- ClinGen CA406688087
- ClinVar RCV001757205
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- ESM-1b 1.00
- AlphaMissense 0.52
- MetaLR 0.03
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available