L24V (p.Leu24Val) variant of TRMU (O75648)
L24V (p.Leu24Val) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- gnomAD 22-46335834-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.70
- MetaSVM 0.40
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available