C9R (p.Cys9Arg) variant of TRMU (O75648)
C9R (p.Cys9Arg) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C9R (p.Cys9Arg) variant details
- p.Cys9Arg
- gnomAD 22-46335789-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.49
- MetaSVM 0.07
- CADD 29.40
- Population evidence available
- Structural context available
- Literature evidence available