L4M (p.Leu4Met) variant of TRMU (O75648)
L4M (p.Leu4Met) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD 22-46335774-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.04
- ESM-1b 0.68
- AlphaMissense 0.10
- MetaLR 0.13
- MetaSVM -0.97
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available