G33A (p.Gly33Ala) variant of TRMU (O75648)
G33A (p.Gly33Ala) in TRMU (O75648) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G33A (p.Gly33Ala) variant details
- p.Gly33Ala
- gnomAD rs2078017116
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available