V72S (p.Val72Ser) variant of TECTA (Alpha-tectorin)
V72S (p.Val72Ser) in TECTA (Alpha-tectorin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V72S (p.Val72Ser) variant details
- p.Val72Ser
- rs1565516684
- gnomAD 11-121109222-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available