G28C (p.Gly28Cys) variant of TRMU (O75648)
G28C (p.Gly28Cys) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G28C (p.Gly28Cys) variant details
- p.Gly28Cys
- gnomAD 22-46335846-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.72
- MetaSVM 0.78
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available