G28L (p.Gly28Leu) variant of TRMU (O75648)
G28L (p.Gly28Leu) in TRMU (O75648) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G28L (p.Gly28Leu) variant details
- p.Gly28Leu
- rs2077957664
- gnomAD 22-46335841-GGA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 29.80
- Most common in the Amish population (allele frequency 1)
- Structural context available
- Literature evidence available