Q2L (p.Gln2Leu) variant of TRMU (O75648)
Q2L (p.Gln2Leu) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q2L (p.Gln2Leu) variant details
- p.Gln2Leu
- gnomAD 22-46335769-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.14
- MetaSVM -1.11
- CADD 7.78
- Population evidence available
- Structural context available
- Literature evidence available