R5L (p.Arg5Leu) variant of TRMU (O75648)
R5L (p.Arg5Leu) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 22-46335778-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.54
- MetaSVM 0.15
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available