A18D (p.Ala18Asp) variant of TRMU (O75648)
A18D (p.Ala18Asp) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 22-46335817-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.58
- CADD 29.00
- Population evidence available
- Structural context available
- Literature evidence available