I53T (p.Ile53Thr) variant of TECTA (Alpha-tectorin)
I53T (p.Ile53Thr) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I53T (p.Ile53Thr) variant details
- p.Ile53Thr
- gnomAD 11-121105924-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.21
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available