M1I (p.Met1Ile) variant of GNAT1 (P11488)
M1I (p.Met1Ile) in GNAT1 (P11488) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions, population frequency data, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs753375778
- ClinGen CA2412417
- ClinVar RCV001348235
- Uncertain significance
- not provided
- Missense
- MetaLR 0.77
- MetaSVM 0.67
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.69
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available