G28D (p.Gly28Asp) variant of TRMU (O75648)
G28D (p.Gly28Asp) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- gnomAD 22-46337779-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.68
- MetaSVM 0.62
- CADD 33.00
- Most common in the South Asian population (allele frequency 0.00056)
- Structural context available
- Literature evidence available