M1V (p.Met1Val) variant of GNAT1 (P11488)
M1V (p.Met1Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs763736641
- ClinGen CA2412416
- ClinVar RCV001968871
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- MetaLR 0.75
- MetaSVM 0.65
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available