C9G (p.Cys9Gly) variant of TRMU (O75648)
C9G (p.Cys9Gly) in TRMU (O75648) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
C9G (p.Cys9Gly) variant details
- p.Cys9Gly
- gnomAD 22-46335789-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.67
- MetaLR 0.48
- MetaSVM 0.04
- CADD 28.70
- Most common in the HGDP:SHE population (allele frequency 0.11)
- Structural context available
- Literature evidence available