H20Q (p.His20Gln) variant of TECTA (Alpha-tectorin)
H20Q (p.His20Gln) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H20Q (p.His20Gln) variant details
- p.His20Gln
- gnomAD 11-121102725-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.03
- CADD 8.85
- PolyPhen-2 0.00
- SIFT 0.97
- Population evidence available
- Structural context available
- Literature evidence available