V8E (p.Val8Glu) variant of TRMU (O75648)
V8E (p.Val8Glu) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- gnomAD 22-46335787-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.52
- MetaSVM 0.15
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available