L23V (p.Leu23Val) variant of TRMU (O75648)
L23V (p.Leu23Val) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- gnomAD 22-46335831-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.54
- MetaSVM 0.24
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available