G14V (p.Gly14Val) variant of TRMU (O75648)
G14V (p.Gly14Val) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- gnomAD 22-46335805-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.98
- MetaSVM 1.06
- CADD 29.90
- Population evidence available
- Structural context available
- Literature evidence available