Y29H (p.Tyr29His) variant of TECTA (Alpha-tectorin)
Y29H (p.Tyr29His) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y29H (p.Tyr29His) variant details
- p.Tyr29His
- gnomAD 11-121105851-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.52
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available