T83P (p.Thr83Pro) variant of TECTA (Alpha-tectorin)
T83P (p.Thr83Pro) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T83P (p.Thr83Pro) variant details
- p.Thr83Pro
- gnomAD 11-121109259-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.49
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available