C9F (p.Cys9Phe) variant of TRMU (O75648)
C9F (p.Cys9Phe) 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.
C9F (p.Cys9Phe) variant details
- p.Cys9Phe
- gnomAD 22-46335790-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.50
- MetaSVM 0.11
- CADD 28.10
- Population evidence available
- Structural context available
- Literature evidence available