L17V (p.Leu17Val) variant of TECTA (Alpha-tectorin)
L17V (p.Leu17Val) in TECTA (Alpha-tectorin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD 11-121102714-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.05
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available