A22S (p.Ala22Ser) variant of TECTA (Alpha-tectorin)
A22S (p.Ala22Ser) in TECTA (Alpha-tectorin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- gnomAD 11-121102726-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 27.90
- Population evidence available
- Structural context available
- Literature evidence available