A52del (p.Ala52del) variant of TECTA (Alpha-tectorin)
A52del (p.Ala52del) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A52del (p.Ala52del) variant details
- rs753424297
- gnomAD 11-121105919-GGCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available