H6Y (p.His6Tyr) variant of TRMU (O75648)
H6Y (p.His6Tyr) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
H6Y (p.His6Tyr) variant details
- p.His6Tyr
- gnomAD 22-46335780-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.36
- MetaSVM -0.24
- CADD 28.30
- Population evidence available
- Structural context available
- Literature evidence available