Q30R (p.Gln30Arg) variant of TRMU (O75648)
Q30R (p.Gln30Arg) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- gnomAD 22-46337785-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- ESM-1b 0.50
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -0.81
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available