L24Q (p.Leu24Gln) variant of TRMU (O75648)
L24Q (p.Leu24Gln) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L24Q (p.Leu24Gln) variant details
- p.Leu24Gln
- gnomAD 22-46335835-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.77
- MetaSVM 0.80
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available