S12T (p.Ser12Thr) variant of TRMU (O75648)
S12T (p.Ser12Thr) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S12T (p.Ser12Thr) variant details
- p.Ser12Thr
- gnomAD 22-46335798-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 1.00
- MetaSVM 0.89
- CADD 27.90
- Population evidence available
- Structural context available
- Literature evidence available