R5G (p.Arg5Gly) variant of TRMU (O75648)
R5G (p.Arg5Gly) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD 22-46335777-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.45
- MetaSVM -0.11
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available