H20R (p.His20Arg) variant of TECTA (Alpha-tectorin)
H20R (p.His20Arg) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H20R (p.His20Arg) variant details
- p.His20Arg
- gnomAD 11-121102724-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.11
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available