A18V (p.Ala18Val) variant of TRMU (O75648)
A18V (p.Ala18Val) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 22-46335817-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.66
- MetaSVM 0.58
- CADD 28.90
- Population evidence available
- Structural context available
- Literature evidence available