L22V (p.Leu22Val) variant of TRMU (O75648)
L22V (p.Leu22Val) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- gnomAD 22-46335828-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.20
- MetaSVM -0.71
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available