D16E (p.Asp16Glu) variant of TRMU (O75648)
D16E (p.Asp16Glu) 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 0.77 / 1. The record also includes population frequency data and structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- gnomAD rs1447716712
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available