E48E (p.Glu48Glu) variant of TECTA (Alpha-tectorin)
E48E (p.Glu48Glu) in TECTA (Alpha-tectorin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- rs751702344
- gnomAD 11-121105910-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.238
- CADD 8.66
- Population evidence available
- Structural context available
- Literature evidence available