S47Y (p.Ser47Tyr) variant of TECTA (Alpha-tectorin)
S47Y (p.Ser47Tyr) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S47Y (p.Ser47Tyr) variant details
- p.Ser47Tyr
- gnomAD 11-121105906-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.35
- CADD 23.20
- PolyPhen-2 0.36
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available