R27G (p.Arg27Gly) variant of TRMU (O75648)
R27G (p.Arg27Gly) in TRMU (O75648) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- TOPMed rs1167225464
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.42
- CADD 27.40
- PolyPhen-2 0.08
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available