Q2E (p.Gln2Glu) variant of TRMU (O75648)
Q2E (p.Gln2Glu) in TRMU (O75648) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Q2E (p.Gln2Glu) variant details
- p.Gln2Glu
- TOPMed rs1464059546
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.41
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available