S12Y (p.Ser12Tyr) variant of TRMU (O75648)
S12Y (p.Ser12Tyr) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S12Y (p.Ser12Tyr) variant details
- p.Ser12Tyr
- gnomAD 22-46335799-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.92
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available